ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)

gnomAD frequency: 0.00003  dbSNP: rs376678876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509375 SCV001716042 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847286 SCV002105157 uncertain significance Hereditary spastic paraplegia 2017-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564285 SCV003466680 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-03-14 criteria provided, single submitter clinical testing

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