ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21318del (p.Lys7106fs)

dbSNP: rs2092318339
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221820 SCV001393883 pathogenic Nemaline myopathy 2 2022-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 950169). This premature translational stop signal has been observed in individual(s) with nemaline myopathy (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys7141Asnfs*23) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138).
Fulgent Genetics, Fulgent Genetics RCV005029783 SCV005650409 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-04-11 criteria provided, single submitter 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.