ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)

gnomAD frequency: 0.00004  dbSNP: rs373020081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800122 SCV000939822 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001569003 SCV001792974 uncertain significance not provided 2022-11-08 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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