ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)

gnomAD frequency: 0.19153  dbSNP: rs5763269
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625210 SCV000744140 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000057185 SCV001881764 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781391 SCV002026703 benign Charcot-Marie-Tooth disease axonal type 2CC 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV000057185 SCV002388976 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496749 SCV002809036 benign Amyotrophic lateral sclerosis type 1; Charcot-Marie-Tooth disease axonal type 2CC 2022-03-30 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057185 SCV000088298 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625210 SCV000745594 benign Amyotrophic lateral sclerosis type 1 2015-04-21 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699028 SCV001919988 benign not specified 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.