ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.266-11A>G

gnomAD frequency: 0.00002  dbSNP: rs574469098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001672112 SCV001888295 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073161 SCV002420916 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002073161 SCV002555253 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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