ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)

gnomAD frequency: 0.00278  dbSNP: rs115511838
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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 RCV000528723 SCV000656155 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001564418 SCV001787580 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000528723 SCV002812473 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-10-20 criteria provided, single submitter clinical testing

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