ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) (rs796065338)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180764 SCV000233252 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Invitae RCV001081238 SCV000640639 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586460 SCV000697810 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.19285_19286delinsAA (p.Ala6429delinsAsn) variant causes a missense change involving the alteration of a conserved nucleotide. One in silico tool predicts a damaging outcome for this variant. This variant was found in 570/100068 control chromosomes at a frequency of 0.0056961, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000586460 SCV001144710 benign not provided 2019-06-27 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.