ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)

gnomAD frequency: 0.00001  dbSNP: rs762152367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361328 SCV000343023 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518055 SCV003250959 likely benign Bethlem myopathy 1A 2023-11-16 criteria provided, single submitter clinical testing

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