ClinVar Miner

Submissions for variant NM_004114.5(FGF13):c.14T>G (p.Ile5Ser)

dbSNP: rs2124253547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001542464 SCV001760941 likely pathogenic Developmental and epileptic encephalopathy, 90 2021-07-24 criteria provided, single submitter clinical testing
OMIM RCV001542464 SCV003841053 pathogenic Developmental and epileptic encephalopathy, 90 2023-01-18 no assertion criteria provided literature only

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