ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6438+50A>T

gnomAD frequency: 0.86951  dbSNP: rs2276289
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242494 SCV000303309 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829534 SCV000971264 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001533380 SCV001749258 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533381 SCV001749259 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533382 SCV001749260 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829534 SCV005232922 benign not provided criteria provided, single submitter not provided

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.