ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)

gnomAD frequency: 0.00036  dbSNP: rs114493681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974726 SCV001122575 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001585893 SCV001813216 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000974726 SCV002554592 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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