ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)

gnomAD frequency: 0.00001  dbSNP: rs767969927
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243578 SCV001416746 likely benign Nemaline myopathy 2 2024-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034754 SCV004980967 uncertain significance Inborn genetic diseases 2024-02-13 criteria provided, single submitter clinical testing The c.18790G>C (p.E6264Q) alteration is located in exon 140 (coding exon 138) of the NEB gene. This alteration results from a G to C substitution at nucleotide position 18790, causing the glutamic acid (E) at amino acid position 6264 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001243578 SCV002083992 uncertain significance Nemaline myopathy 2 2020-07-23 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.