ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4162-10T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003230195 SCV003927700 likely pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 29732542, 31900114)
Fulgent Genetics, Fulgent Genetics RCV005012821 SCV005637892 likely pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2024-06-01 criteria provided, single submitter clinical testing

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