ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)

gnomAD frequency: 0.00003  dbSNP: rs763470078
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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 RCV001205001 SCV001376236 likely benign Bethlem myopathy 1A 2023-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001760167 SCV001999566 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001760167 SCV003833769 uncertain significance not provided 2020-07-21 criteria provided, single submitter clinical testing

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