ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) (rs139486476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000514276 SCV000563173 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514276 SCV000610296 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717127 SCV000847973 likely benign Seizures 2017-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Sub-population frequency in support of benign classification (not ava blue, manual h-w),In silico models in agreement (benign)

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