ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=)

gnomAD frequency: 0.00006  dbSNP: rs144223578
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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 RCV000909925 SCV001054761 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705907 SCV005222222 likely benign not provided criteria provided, single submitter not provided

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