ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2550+5G>A (rs41270349)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443915 SCV000514844 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000858611 SCV000563161 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717859 SCV000848719 benign Seizures 2018-01-16 criteria provided, single submitter clinical testing Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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