ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)

dbSNP: rs1053320929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500679 SCV000595101 likely benign not specified 2016-02-18 criteria provided, single submitter clinical testing
Invitae RCV003522982 SCV004336549 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-14 criteria provided, single submitter clinical testing

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