ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)

gnomAD frequency: 0.00001  dbSNP: rs764952741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700156 SCV000828901 benign Intellectual disability, autosomal dominant 5 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263943 SCV002545415 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SYNGAP1: BS2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000700156 SCV004101102 uncertain significance Intellectual disability, autosomal dominant 5 2023-11-02 no assertion criteria provided clinical testing

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