ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2164+18C>A

gnomAD frequency: 0.00001  dbSNP: rs183023584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553028 SCV001773824 likely benign not provided 2019-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072060 SCV002407772 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-06 criteria provided, single submitter clinical testing

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