ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.234G>A (p.Lys78=)

gnomAD frequency: 0.00006  dbSNP: rs146206138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876415 SCV001018984 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512130 SCV002821974 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SETX: BP4, BP7
Genome-Nilou Lab RCV003233879 SCV003931594 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233880 SCV003931595 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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