ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)

gnomAD frequency: 0.00004  dbSNP: rs370360673
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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 RCV000795382 SCV000934845 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-05 criteria provided, single submitter clinical testing
GeneDx RCV003228989 SCV003925961 uncertain significance not provided 2022-11-21 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
CeGaT Center for Human Genetics Tuebingen RCV003228989 SCV004159763 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing COL12A1: PM2, BP4

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