ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)

gnomAD frequency: 0.00012  dbSNP: rs782484757
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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 RCV000193189 SCV000247550 uncertain significance not specified 2015-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054266 SCV002325837 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-11-27 criteria provided, single submitter clinical testing

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