ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=)

dbSNP: rs535388759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848583 SCV002105526 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545277 SCV003343951 likely benign Hereditary spastic paraplegia 39 2022-04-11 criteria provided, single submitter clinical testing

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