ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3582+7T>C

gnomAD frequency: 0.00193  dbSNP: rs370618729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475102 SCV000562716 benign Intellectual disability, autosomal dominant 5 2024-01-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000475102 SCV000782330 likely benign Intellectual disability, autosomal dominant 5 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001706644 SCV001839109 benign not provided 2020-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706644 SCV004700802 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SYNGAP1: BP4, BS1

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