ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)

dbSNP: rs1600542275
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995829 SCV001150197 pathogenic Pigmentary pallidal degeneration 2018-07-16 criteria provided, single submitter clinical testing

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