ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2301C>T (p.His767=)

gnomAD frequency: 0.00008  dbSNP: rs138371054
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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) RCV000591158 SCV000702188 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088982 SCV000775506 likely benign Bethlem myopathy 1A 2024-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000591158 SCV000983364 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543321 SCV004769336 likely benign COL6A2-related disorder 2019-11-21 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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