ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)

dbSNP: rs2148561246
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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 RCV001482909 SCV001687288 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434268 SCV004167215 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing HCFC1: PM2:Supporting, BP4, BP7

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