ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1332+16C>A

dbSNP: rs142997448
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002122652 SCV002401102 benign Pigmentary pallidal degeneration 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717877 SCV005309436 benign not provided criteria provided, single submitter not provided

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