ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=)

gnomAD frequency: 0.00001  dbSNP: rs140940366
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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 RCV000537072 SCV000655317 likely benign Developmental and epileptic encephalopathy, 25 2024-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000604759 SCV000725266 likely benign not specified 2017-12-05 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.

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