ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.555-20G>A

gnomAD frequency: 0.00880  dbSNP: rs183762415
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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 RCV001511692 SCV001718976 benign Hereditary spastic paraplegia 39 2025-02-03 criteria provided, single submitter clinical testing

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