ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002287199 SCV002577363 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-07-08 criteria provided, single submitter clinical testing

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