ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3913+17_3913+18del

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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 RCV003073073 SCV003473840 likely benign Hereditary spastic paraplegia 39 2022-03-29 criteria provided, single submitter clinical testing

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