ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1676+5G>T

dbSNP: rs1760935231
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265157 SCV001443192 likely pathogenic Complex neurodevelopmental disorder 2018-05-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-04 and interpreted as Likely Pathogenic. Variant was initially reported on 2017-10-26 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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