ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del)

dbSNP: rs2131510168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Xiangya Hospital, Central South University RCV001726700 SCV001961020 pathogenic Developmental and epileptic encephalopathy, 4 2020-01-09 no assertion criteria provided clinical testing

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