ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2127G>A (p.Thr709=)

gnomAD frequency: 0.00001  dbSNP: rs2023621489
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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 RCV001894215 SCV002120215 likely benign Hereditary spastic paraplegia 39 2022-03-29 criteria provided, single submitter clinical testing

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