ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1])

dbSNP: rs774101585
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862372 SCV001002868 likely benign Intellectual disability, autosomal dominant 5 2023-09-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532545 SCV001748156 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001532545 SCV001851297 benign not provided 2020-03-31 criteria provided, single submitter clinical testing

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