ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)

gnomAD frequency: 0.00003  dbSNP: rs757134644
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 RCV002917235 SCV003247343 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721090 SCV005331338 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7

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