ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)

dbSNP: rs2065388763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665288 SCV001875054 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency 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
Fulgent Genetics, Fulgent Genetics RCV002488444 SCV002789184 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-11-02 criteria provided, single submitter clinical testing

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