ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13717A>C (p.Asn4573His) (rs34382952)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000254363 SCV000225021 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254363 SCV000312148 likely benign not specified criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515968 SCV000574498 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488235 SCV000574947 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000488235 SCV000614938 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Invitae RCV001082378 SCV000629455 likely benign Spastic paraplegia 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000674768 SCV000800161 benign Charlevoix-Saguenay spastic ataxia 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000674768 SCV001268887 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Nilou-Genome Lab RCV000674768 SCV001653434 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000488235 SCV001780154 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23280630, 22162184, 22287014, 19779133, 28832565)
Mayo Clinic Laboratories, Mayo Clinic RCV000488235 SCV000802121 uncertain significance not provided 2016-03-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000674768 SCV001453882 likely benign Charlevoix-Saguenay spastic ataxia 2020-01-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.