ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.997+14G>A

gnomAD frequency: 0.00071  dbSNP: rs201998466
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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 RCV002172308 SCV002332614 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238198 SCV005884626 likely benign not specified 2024-12-09 criteria provided, single submitter clinical testing

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