ClinVar Miner

Submissions for variant NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del)

dbSNP: rs1555546796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585881 SCV000693836 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-01-01 criteria provided, single submitter clinical testing

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