Addendum: Technical standards and guidelines for spinal muscular atrophy testing

Addendum to: “Technical standards and guidelines for spinal muscular atrophy testing”. Thomas W. Prior, PhD, Narasimhan Nagan, PhD, Elaine A. Sugarman, MS, CGC, Sat Dev Batish, PhD and Corey Braastad, PhD; ACMG Laboratory Quality Assurance Committee Genetics in Medicine 13:686–694 (2011); https://doi.org/10.1097/GIM.0b013e318220d523, published online 13 June 2011 and Genetics in Medicine 18:752 (2016); https://doi.org/10.1038/gim.2016.76, published online 30 June 2016.

These documents were reaffirmed by the ACMG Board of Directors as of 24 August 2020 with the following addendum:

The Molecular Genetics Subcommittee members of the ACMG Laboratory Quality Assurance Committee conducted a critical review of the 2011 technical laboratory standard and on 3 July 2020 they recommended that it be reaffirmed with the following URL updates on page 688: “The coding region for SMN can be found on Ensembl (www.ensembl.org). Proper nomenclature must be used to report any verified sequence variant (http://varnomen.hgvs.org).” The 2016 update was reaffirmed as written. The full ACMG Laboratory Quality Assurance Committee endorsed the recommendations to update and reaffirm these documents on 10 July 2020.

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Deignan, J.L., Astbury, C., Behlmann, A. et al. Addendum: Technical standards and guidelines for spinal muscular atrophy testing. Genet Med (2020). https://doi.org/10.1038/s41436-020-00961-6

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