ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)

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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 RCV003440021 SCV004165032 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing HCFC1: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003778464 SCV004677511 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-03-18 criteria provided, single submitter clinical testing

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