ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)

gnomAD frequency: 0.00077  dbSNP: rs138674440
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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) RCV000371289 SCV000337590 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086987 SCV001019670 likely benign Bethlem myopathy 1A 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000371289 SCV001783294 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004543053 SCV004792543 likely benign COL6A2-related disorder 2022-02-15 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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