ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1309-19T>G

gnomAD frequency: 0.00002  dbSNP: rs372001660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997189 SCV002229685 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001997189 SCV002794261 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-11-16 criteria provided, single submitter clinical testing

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