ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796437 SCV005418889 pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM6_Supporting

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