ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr)

gnomAD frequency: 0.00303  dbSNP: rs115123584
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
Eurofins Ntd Llc (ga) RCV000177929 SCV000229891 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430461 SCV000511266 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000177929 SCV000711163 benign not specified 2017-11-27 criteria provided, single submitter clinical testing Ile1775Thr in Exon 38 of MYO7A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (143/16558) of African chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs115123584).
GeneDx RCV000430461 SCV000728037 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19375528)
Invitae RCV000430461 SCV001032615 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927654 SCV004740921 likely benign MYO7A-related condition 2019-02-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000430461 SCV001919698 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000430461 SCV001968694 likely benign not provided 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.