ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.198G>A (p.Gly66=)

gnomAD frequency: 0.00006  dbSNP: rs751025789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002547253 SCV001100985 likely benign Pigmentary pallidal degeneration 2024-04-01 criteria provided, single submitter clinical testing

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