ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)

gnomAD frequency: 0.00012  dbSNP: rs199692759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246276 SCV001419619 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001760284 SCV002008781 uncertain significance not provided 2022-12-19 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
Revvity Omics, Revvity RCV001760284 SCV003833391 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing

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