ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1590A>C (p.Ile530=)

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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 RCV003601517 SCV004407576 likely benign Hereditary spastic paraplegia 11 2022-10-26 criteria provided, single submitter clinical testing

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