ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)

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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 RCV004785228 SCV005397862 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-08-04 criteria provided, single submitter clinical testing

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