Table 2 Concordance of DTC and confirmatory results from our clinical diagnostic laboratory

From: False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Confirmed variants Variant frequency Ambry a False positives Variant frequency Ambry a
BRCA1 c.68_69delAG (p.E23Vfs*17) 3 PV CHEK2 c.1100delC (p.T367Mfs*15) 2 PV
BRCA1 c.5266dupC (p.Q1756Pfs*74) 1 PV TP53 p.R175H (c.524G>A) 3 PV
BRCA2 c.5946delT (p.S1982Rfs*22) 9 PV BRCA1 p.E1250* (c.3748G>T) 1 PV
CHEK2 c.1100delC (p.T367Mfs*15) 2 PV BRCA1 p.A1708E (c.5123C>A) 1 PV
CFTR p.F508del (c.1521_1523delCTT) 4 PV BRCA1 p.R1699W (c.5095C>T) 1 PV
BRCA1 p.Q356R (c.1067A>G) 1 Benign BRCA2 p.S1955* (c.5864C>A) 1 PV
BRCA2 p.N372H (c.1114A>C) 3 Benign BRCA2 c.9026_9030delATCAT (p.Y3009Sfs*7) 2 PV
CHEK2 p.I157T (c.470T>C) 1 MPPV BRCA2 p.R2336H (c.7007G>A) 1 PV
MEFV p.A744S (c.2230G>T) 1 VUS BRCA2 c.1813dupA (p.I605Nfs*11) 1 PV
MEFV p.V726A (c.2177T>C) 1 PV ATM p.M1040V (c.3118A>G) 1 Benign
  26 Totalb   MLH1 p.H329P (c.986A>C) 1 PV
    MLH1 c.1101delC (p.S368Rfs*33) 1 PV
    COL3A1 p.A698T (c.2092G>A) 1 Benign
     17 Totalb  
  1. DTC, direct to consumer.
  2. aAmbry variant classification: PV, pathogenic variant; MPPV, moderate penetrance pathogenic variant; VUS, variant of unknown significance.
  3. bThe combined number of variants analyzed does not equal the total number of individuals in this study (n = 49) because some individuals had overlapping variants in question. In addition, four variants in question were out of our reporting range and therefore not analyzed.