ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.999T>C (p.Ser333=)

gnomAD frequency: 0.00004  dbSNP: rs746668292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427332 SCV000529900 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001460425 SCV001664296 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001460425 SCV002554814 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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