ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) (rs149831634)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462658 SCV000563172 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720653 SCV000851532 likely benign Seizures 2018-10-12 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
GeneDx RCV000462658 SCV001819220 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing

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