ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1227A>G (p.Leu409=)

gnomAD frequency: 0.00006  dbSNP: rs769913556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847553 SCV002105123 uncertain significance Hereditary spastic paraplegia 2017-10-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227284 SCV002506270 likely benign not provided 2022-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543367 SCV003249176 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-11-01 criteria provided, single submitter clinical testing

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