ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)

gnomAD frequency: 0.00002  dbSNP: rs368481619
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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 RCV002029697 SCV002299680 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-03-01 criteria provided, single submitter clinical testing
GeneDx RCV002290839 SCV002578714 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Revvity Omics, Revvity RCV002290839 SCV003832839 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing

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