ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2709G>A (p.Ala903=)

gnomAD frequency: 0.00001  dbSNP: rs1198453694
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001489483 SCV001694025 likely benign Hereditary spastic paraplegia 39 2019-12-05 criteria provided, single submitter clinical testing

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