ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.291G>A (p.Lys97=)

gnomAD frequency: 0.00004  dbSNP: rs764439399
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002191600 SCV002485784 likely benign Pigmentary pallidal degeneration 2023-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505868 SCV002809602 likely benign Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 2022-04-01 criteria provided, single submitter clinical testing

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