ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)

dbSNP: rs764153192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042896 SCV001206604 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001571233 SCV001795663 uncertain significance not provided 2023-08-22 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 does not alter protein structure/function

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