ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5973C>T (p.Asp1991=)

gnomAD frequency: 0.00001  dbSNP: rs1210056357
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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 RCV001848124 SCV002105173 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772375 SCV004586059 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-04 criteria provided, single submitter clinical testing

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