ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)

gnomAD frequency: 0.00006  dbSNP: rs368113790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224156 SCV001396339 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV002511060 SCV002820809 uncertain significance not provided 2023-05-08 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 does not alter protein structure/function

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