ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)

gnomAD frequency: 0.00012  dbSNP: rs370113081
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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 RCV002106300 SCV002433211 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933548 SCV004753104 likely benign HCFC1-related disorder 2019-07-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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