ClinVar Miner

Submissions for variant NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine RCV002508182 SCV002817374 likely pathogenic Developmental and epileptic encephalopathy, 90 no assertion criteria provided clinical testing

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