ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1913+2T>G

dbSNP: rs2151181133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002049735 SCV002107290 pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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