ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3022G>A (p.Asp1008Asn)

gnomAD frequency: 0.00001  dbSNP: rs1156508338
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589685 SCV001814258 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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