ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)

gnomAD frequency: 0.00003  dbSNP: rs782368009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131919 SCV002460279 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002131919 SCV002801043 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2021-12-22 criteria provided, single submitter clinical testing

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