ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)

gnomAD frequency: 0.00002  dbSNP: rs752812483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755624 SCV002005203 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001868762 SCV002287202 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-04-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001868762 SCV002778060 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-01-07 criteria provided, single submitter clinical testing

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