ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=)

gnomAD frequency: 0.00002  dbSNP: rs765327402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002143634 SCV002467029 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-30 criteria provided, single submitter clinical testing

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