ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2983G>T (p.Val995Phe) (rs142967124)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203008 SCV000258073 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV001086025 SCV000289954 benign Spastic paraplegia 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000203008 SCV000345523 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000203008 SCV000614948 benign not specified 2020-01-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761853 SCV000892058 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109614 SCV001266968 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Nilou-Genome Lab RCV001109614 SCV001653416 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000761853 SCV001802399 likely benign not provided 2020-10-01 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 29482223, 19779133, 23497566)

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.