ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)

gnomAD frequency: 0.00493  dbSNP: rs116205032
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085644 SCV000766563 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000644848 SCV001145535 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000644848 SCV001949043 benign not provided 2020-07-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 25133958, 20981092, 23129421, 17096168)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848884 SCV002105126 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233662 SCV003931535 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233663 SCV003931536 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000644848 SCV004156618 benign not provided 2023-11-01 criteria provided, single submitter clinical testing SETX: BP4, BS1, BS2

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