ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)

gnomAD frequency: 0.00002  dbSNP: rs759237307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987258 SCV002214207 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-07 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697168 SCV005197544 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing

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