ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu)

gnomAD frequency: 0.00001  dbSNP: rs752316341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002032705 SCV002205244 benign Intellectual disability, autosomal dominant 5 2022-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001730206 SCV001977757 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730206 SCV001980178 uncertain significance not provided no assertion criteria provided clinical testing

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