ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)

gnomAD frequency: 0.00002  dbSNP: rs765193793
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645745 SCV000767500 likely benign Intellectual disability, autosomal dominant 5 2023-04-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000645745 SCV003818867 uncertain significance Intellectual disability, autosomal dominant 5 2019-12-19 criteria provided, single submitter clinical testing

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