ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)

gnomAD frequency: 0.00003  dbSNP: rs375747001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713222 SCV000843808 uncertain significance not provided 2018-06-30 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644780 SCV001519200 likely pathogenic Amyotrophic lateral sclerosis type 4 2021-01-04 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000713222 SCV001716038 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532951 SCV003294100 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-09-21 criteria provided, single submitter clinical testing

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