ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2427C>G (p.Ile809Met)

gnomAD frequency: 0.00001  dbSNP: rs765654690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847558 SCV002105136 uncertain significance Hereditary spastic paraplegia 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772374 SCV004606268 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-28 criteria provided, single submitter clinical testing

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