ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2185-20C>G

dbSNP: rs2023642040
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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 RCV002211859 SCV002352740 likely benign Hereditary spastic paraplegia 39 2021-08-15 criteria provided, single submitter clinical testing

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