ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)

gnomAD frequency: 0.00004  dbSNP: rs138287942
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870813 SCV002135735 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV002282623 SCV002571330 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002440950 SCV002750199 uncertain significance Inborn genetic diseases 2023-07-06 criteria provided, single submitter clinical testing Unkely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV002282623 SCV002771081 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234125 SCV003931486 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234126 SCV003931487 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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