ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462487 SCV002757212 uncertain significance not provided 2022-05-26 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 RCV003103128 SCV002971165 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-04-25 criteria provided, single submitter clinical testing

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