ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)

gnomAD frequency: 0.00004  dbSNP: rs202109365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689507 SCV000817161 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998648 SCV001154819 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing COL12A1: BP4
GeneDx RCV000998648 SCV001777833 uncertain significance not provided 2023-05-17 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

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