ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)

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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 RCV002872302 SCV003239961 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-02-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883840 SCV004702920 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7

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