ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.327C>T (p.Cys109=)

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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 RCV003623776 SCV004513329 likely benign Hereditary spastic paraplegia 2 2023-05-16 criteria provided, single submitter clinical testing

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