ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)

gnomAD frequency: 0.00001  dbSNP: rs781971515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801280 SCV002047489 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-12-17 criteria provided, single submitter clinical testing

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