ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)

gnomAD frequency: 0.00038  dbSNP: rs142303658
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518280 SCV000615212 benign not specified 2020-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624322 SCV000740953 uncertain significance Inborn genetic diseases 2015-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764810 SCV000895955 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000764810 SCV000960834 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-11 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731743 SCV001984421 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001702669 SCV002576059 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19696032, 15106121, 14770181, 15732101)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702669 SCV001927740 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702669 SCV001970314 likely benign not provided no assertion criteria provided clinical testing

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