ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)

gnomAD frequency: 0.01590  dbSNP: rs36002196
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553456 SCV000656183 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001595018 SCV001829891 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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