ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)

gnomAD frequency: 0.00004  dbSNP: rs371016672
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 RCV000876311 SCV001018869 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000876311 SCV002805855 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-03 criteria provided, single submitter clinical testing

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