ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)

dbSNP: rs188211202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806316 SCV002053823 uncertain significance Pigmentary pallidal degeneration criteria provided, single submitter clinical testing

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