ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5212-14C>T

gnomAD frequency: 0.16745  dbSNP: rs2072652
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 RCV000038971 SCV000062649 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 5212-14C>T in Intron 19 of MYO15A: This variant is not expected to have clinical significance because it has been identified in 14.0% (462/3304) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs2072652).
PreventionGenetics, part of Exact Sciences RCV000038971 SCV000312646 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269512 SCV000401151 benign Autosomal recessive nonsyndromic hearing loss 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001610333 SCV001836091 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001610333 SCV002431399 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610333 SCV005248571 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.