ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002629105 SCV003517303 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-06-14 criteria provided, single submitter clinical testing

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