ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)

gnomAD frequency: 0.00004  dbSNP: rs201810535
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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 RCV000809373 SCV000949523 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001776022 SCV002012524 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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