ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)

gnomAD frequency: 0.00001  dbSNP: rs768824483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930643 SCV002193295 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-04-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146351 SCV003833280 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003146351 SCV004159759 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing COL12A1: BP4

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