ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.315+15C>T

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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 RCV005167117 SCV005805060 likely benign Hereditary spastic paraplegia 39 2024-06-28 criteria provided, single submitter clinical testing

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