ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)

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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 RCV003862790 SCV004663975 likely benign Hereditary spastic paraplegia 48 2023-12-03 criteria provided, single submitter clinical testing

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