ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln)

dbSNP: rs1316461983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073377 SCV001238918 uncertain significance Retinal dystrophy 2019-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001549374 SCV001769511 uncertain significance not provided 2020-05-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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

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