ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1590del (p.His531fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002475074 SCV002771259 pathogenic not provided 2022-05-18 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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