ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=)

dbSNP: rs369091114
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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 RCV002077735 SCV002327570 likely benign Hereditary spastic paraplegia 48 2021-03-23 criteria provided, single submitter clinical testing

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