ClinVar Miner

Submissions for variant NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) (rs1012947103)

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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 RCV000733234 SCV000861276 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678589 SCV000804671 uncertain significance Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing

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