ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.739-10T>G

gnomAD frequency: 0.00555  dbSNP: rs118093738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128025 SCV000171615 benign not specified 2014-03-03 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 RCV001521212 SCV001730502 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521212 SCV002554847 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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