ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)

gnomAD frequency: 0.00004  dbSNP: rs553575841
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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 RCV000543279 SCV000656182 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000543279 SCV002805967 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-09-01 criteria provided, single submitter clinical testing

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