ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)

gnomAD frequency: 0.00004  dbSNP: rs201372309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652912 SCV000774784 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001592828 SCV001825378 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 542484; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31273343)

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