ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) (rs76675748)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716131 SCV000846966 likely benign Seizures 2017-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Other strong data
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424295 SCV000510956 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000230722 SCV000290134 benign not specified 2017-01-19 criteria provided, single submitter clinical testing

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