ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.997+9A>G

dbSNP: rs560228996
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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 RCV001471016 SCV001675118 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-05-17 criteria provided, single submitter clinical testing

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