ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1207-11G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338061 SCV004046947 uncertain significance Pigmentary pallidal degeneration criteria provided, single submitter clinical testing The intronic variant in c.1537-11G>A in PANK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1537-11G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. For these reasons, this variant has been classified as Variant of Uncertain Significance.

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