ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)

dbSNP: rs145472959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330303 SCV001521945 uncertain significance Intellectual disability, autosomal dominant 5 2019-11-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003433115 SCV004161500 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing SYNGAP1: PP2, BS1:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001330303 SCV004371457 benign Intellectual disability, autosomal dominant 5 2024-10-30 criteria provided, single submitter clinical testing

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