ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) (rs574115531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865640 SCV001006638 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000576903 SCV000676932 uncertain significance Early infantile epileptic encephalopathy 18 2017-12-25 no assertion criteria provided clinical testing The observed variant c.2086C>T (p.R696W) has a minor allele frequency of 0.04% in 1000 Genome database and 0.05% in ExAC database. The in silico prediction of the mutation is damaging by MutationTaster2, SIFT, and probably damaging by PolyPhen2.

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