ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter)

dbSNP: rs2065788445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001824275 SCV002073946 likely pathogenic Developmental and epileptic encephalopathy, 16 2022-02-08 no assertion criteria provided clinical testing

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