ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)

gnomAD frequency: 0.00024  dbSNP: rs373739940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592436 SCV001824060 uncertain significance not provided 2022-12-21 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001866218 SCV002257681 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001592436 SCV003833298 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001592436 SCV005189122 uncertain significance not provided criteria provided, single submitter not provided

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