ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.732G>A (p.Val244=)

gnomAD frequency: 0.00010  dbSNP: rs200141559
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 RCV000951947 SCV001098404 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424491 SCV004159776 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7

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