ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) (rs147309177)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863287 SCV001003923 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
New York Genome Center RCV001255051 SCV001431142 uncertain significance Seizures 2020-01-23 no assertion criteria provided clinical testing

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