ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1075+28T>C

gnomAD frequency: 0.98952  dbSNP: rs7943955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538068 SCV001755082 benign Neuronal ceroid lipofuscinosis 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538069 SCV001755083 benign Autosomal recessive spinocerebellar ataxia 7 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675456 SCV001940238 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594089 SCV005087825 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 93. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000675456 SCV005322109 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675456 SCV000801141 benign not provided 2015-10-22 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.