ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.441C>T (p.Pro147=)

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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 RCV002574054 SCV002935276 likely benign Hereditary spastic paraplegia 39 2022-07-21 criteria provided, single submitter clinical testing

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