ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)

gnomAD frequency: 0.00016  dbSNP: rs150489999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992958 SCV001145576 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing
Invitae RCV001041927 SCV001205580 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233909 SCV003931833 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233910 SCV003931844 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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