ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1576-13G>A

gnomAD frequency: 0.00040  dbSNP: rs377340234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698321 SCV000534194 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060037 SCV002450124 likely benign Developmental and epileptic encephalopathy, 25 2025-01-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002060037 SCV005879998 likely benign Developmental and epileptic encephalopathy, 25 2024-01-17 criteria provided, single submitter clinical testing

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