ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)

gnomAD frequency: 0.00004  dbSNP: rs369501428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509379 SCV001716052 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001509379 SCV002007301 uncertain significance not provided 2020-10-02 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); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV003759053 SCV004547877 benign Ehlers-Danlos syndrome, classic type, 1 2023-02-08 criteria provided, single submitter clinical testing

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