ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1980G>T (p.Val660=)

gnomAD frequency: 0.00006  dbSNP: rs142204241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422388 SCV001624934 likely benign Hereditary spastic paraplegia 39 2024-05-06 criteria provided, single submitter clinical testing

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