ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7473C>T (p.Pro2491=)

gnomAD frequency: 0.00001  dbSNP: rs1173009713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311795 SCV001502107 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071868 SCV002395865 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234036 SCV003931722 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234037 SCV003931733 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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