ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)

gnomAD frequency: 0.00010  dbSNP: rs114624250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546542 SCV001766074 likely benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071998 SCV002333946 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-12-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002071998 SCV002554559 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908894 SCV004723460 likely benign SERAC1-related disorder 2024-07-15 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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