ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.222C>G (p.Thr74=) (rs1555502624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595241 SCV000705382 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV001477522 SCV001681766 likely benign Paroxysmal kinesigenic dyskinesia 2019-11-18 criteria provided, single submitter clinical testing

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