ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.414-14T>A

dbSNP: rs953147743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192158 SCV002341865 likely benign Hereditary spastic paraplegia 39 2022-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704695 SCV005206737 likely benign not provided criteria provided, single submitter not provided

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