ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer)

dbSNP: rs2537402199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV005100311 SCV004232384 pathogenic Intellectual disability, autosomal dominant 5 2024-01-11 criteria provided, single submitter clinical testing

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