ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)

gnomAD frequency: 0.00022  dbSNP: rs200239695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594017 SCV000701602 benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873836 SCV001015912 likely benign Bethlem myopathy 1A 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019013 SCV005651566 likely benign Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 2024-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553309 SCV004723275 likely benign COL6A3-related disorder 2020-02-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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