ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)

gnomAD frequency: 0.00003  dbSNP: rs1357325121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753376 SCV002004979 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002540693 SCV003506773 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-03-03 criteria provided, single submitter clinical testing

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