Table 3 Classification discrepancies

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

Gene Variant DTC/third party a Ambry b ClinVar c ESP d 1000 Genomes e dbSNP f
ATM p.M1040V (c.3118A>G) Increased risk Benign Benign 1.36% 0.95% 1.48%
BRCA1 p.Q356R (c.1067A>G) Increased risk Benign Benign 4.59% 2.81% 3.97%
BRCA2 p.N372H (c.1114A>C) Increased risk Benign Benign 23.32% 24.26% 24.44%
COL3A1 p.A698T (c.2092G>A) Increased risk Benign Benign 21.39% 21.16% 19.16%
COL5A1 c.655-8689C>T Increased risk Deep intronic—benign N/A N/A N/A N/A
COL5A1 c.654+2749A>G Increased risk Deep intronic—benign N/A N/A N/A N/A
COL5A1 c.1827+399C>T Increased risk Deep intronic—VUS N/A N/A N/A N/A
COL5A1 c.1827+1142T>C Increased risk Deep intronic—benign N/A N/A N/A N/A
  1. DTC, direct to consumer; N/A, not available; VUS, variant of unknown significance.
  2. aVariant classification provided by the DTC company or a third-party interpretation service.
  3. bVariant classification provided by Ambry.
  4. cVariant classification provided in ClinVar (clinical laboratory submissions only).
  5. dExome Sequencing Project population frequency database.
  6. e1000 Genomes population frequency database.
  7. fdbSNP population frequency database.