ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)

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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 RCV003523387 SCV004299159 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598270 SCV005092954 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing HCFC1: BS2

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