ClinVar Miner

Submissions for variant NM_001139500.2(FGF13):c.116C>T (p.Ala39Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041641 SCV005682969 uncertain significance Developmental and epileptic encephalopathy, 90; Intellectual developmental disorder, X-linked 110 2023-12-21 criteria provided, single submitter clinical testing

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