ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)

gnomAD frequency: 0.00004  dbSNP: rs200478135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000367029 SCV000333548 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653516 SCV000775397 benign Bethlem myopathy 1A 2024-08-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000367029 SCV003834567 uncertain significance not provided 2022-12-23 criteria provided, single submitter clinical testing

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