ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)

dbSNP: rs754630732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896889 SCV001041002 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001585860 SCV001812565 likely benign not provided 2023-02-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV000896889 SCV002555286 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000896889 SCV003819335 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-04-06 criteria provided, single submitter clinical testing

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