ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7101A>G (p.Gly2367=)

gnomAD frequency: 0.00141  dbSNP: rs79233884
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506543 SCV000605098 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000540713 SCV000645281 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000506543 SCV001880521 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848877 SCV002105186 likely benign Hereditary spastic paraplegia 2019-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233656 SCV003931944 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233657 SCV003931955 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431055 SCV004156596 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SETX: BP4, BP7

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