ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)

gnomAD frequency: 0.00002  dbSNP: rs1244436929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769624 SCV002004502 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868692 SCV002222211 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001868692 SCV002775967 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-05-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001769624 SCV004235376 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing

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