ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)

gnomAD frequency: 0.00001  dbSNP: rs1295465247
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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 RCV000698027 SCV000826667 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-05-20 criteria provided, single submitter clinical testing
GeneDx RCV001766513 SCV002008705 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 575723; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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