ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)

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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 RCV003482499 SCV004229165 likely pathogenic not provided 2022-10-17 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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