ClinVar Miner

Submissions for variant NM_001376256.1(CRYM):c.325-12T>C

gnomAD frequency: 0.27780  dbSNP: rs226045
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037216 SCV000060873 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 325-12T>C in Intron 04 of CRYM: This variant is not expected to have clinical si gnificance because it has been identified in 36.1% (1351/3738) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs226045).
PreventionGenetics, part of Exact Sciences RCV000037216 SCV000308515 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001659956 SCV001873074 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001659957 SCV001876353 benign Autosomal dominant nonsyndromic hearing loss 40 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001659956 SCV002411403 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001659956 SCV005290919 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.