ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.667-7C>T

gnomAD frequency: 0.00006  dbSNP: rs201271211
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602787 SCV000712365 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing c.667-7C>T in intron 4 of MITF: This variant is not expected to have clinical si gnificance because a C>T change at this position does not diverge from the splic e consensus sequence and is therefore unlikely to impact splicing. It has been i dentified in 2/64710 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs201271211).
Labcorp Genetics (formerly Invitae), Labcorp RCV003767437 SCV001059252 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000914093 SCV001823332 likely benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255469 SCV002536414 likely benign Hereditary cancer-predisposing syndrome 2020-10-23 criteria provided, single submitter curation

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.