ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)

gnomAD frequency: 0.00038  dbSNP: rs369241538
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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 RCV000502145 SCV000595102 likely benign not specified 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514665 SCV001722569 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-24 criteria provided, single submitter clinical testing

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