ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)

gnomAD frequency: 0.00419  dbSNP: rs77654847
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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 RCV000652928 SCV000774800 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001551194 SCV001771652 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing

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