ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3651G>C (p.Thr1217=)

dbSNP: rs111419285
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713209 SCV000843795 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV000713209 SCV001024506 likely benign not provided 2017-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458335 SCV002613915 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003233839 SCV003931416 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233840 SCV003931417 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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