ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)

dbSNP: rs1554820858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623279 SCV000740952 uncertain significance Inborn genetic diseases 2015-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093199 SCV001250059 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233763 SCV003931425 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233764 SCV003931426 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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