ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.690C>T (p.Asn230=)

gnomAD frequency: 0.00041  dbSNP: rs146385318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698385 SCV000534193 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000549176 SCV000655341 likely benign Developmental and epileptic encephalopathy, 25 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698385 SCV001961651 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SLC13A5: BP4, BP7

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