ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)

gnomAD frequency: 0.00002  dbSNP: rs776561287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810411 SCV000950609 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV002510984 SCV002820433 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing 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

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