ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)

dbSNP: rs1555787799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000500586 SCV000590932 pathogenic Pigmentary pallidal degeneration 2017-06-07 criteria provided, single submitter clinical testing

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