ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)

gnomAD frequency: 0.00016  dbSNP: rs200443479
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 RCV001078962 SCV001107295 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960330 SCV001154826 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing

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