ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.189C>T (p.Asn63=)

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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 RCV003440023 SCV004165034 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003523180 SCV004301314 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-01 criteria provided, single submitter clinical testing

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