ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)

dbSNP: rs1561785045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984979 SCV001132903 likely pathogenic Intellectual disability, autosomal dominant 5 2019-08-25 no assertion criteria provided clinical testing

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