ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3220C>T (p.Leu1074=)

gnomAD frequency: 0.00001  dbSNP: rs1188314161
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003507334 SCV001066616 likely benign Hereditary spastic paraplegia 39 2023-02-28 criteria provided, single submitter clinical testing

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