ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)

dbSNP: rs1339553173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532702 SCV000657392 likely benign Bethlem myopathy 1A 2022-08-23 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223227 SCV002501794 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002223227 SCV003834647 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing

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