ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3249C>T (p.His1083=)

gnomAD frequency: 0.00002  dbSNP: rs782014460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200552 SCV001371546 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396427 SCV001598158 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-04-02 criteria provided, single submitter clinical testing

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