ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2827-9A>C

gnomAD frequency: 0.14515  dbSNP: rs3745503
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV000037036 SCV000060692 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 2827-9A>C in Intron 23 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 18.4% (607/3304) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs3745503).
PreventionGenetics, part of Exact Sciences RCV000037036 SCV000306860 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317705 SCV000414408 benign Autosomal dominant nonsyndromic hearing loss 4A 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 RCV000037036 SCV000729967 benign not specified 2017-05-09 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 RCV001775556 SCV002014406 benign Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000317705 SCV002014407 benign Autosomal dominant nonsyndromic hearing loss 4A 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002054627 SCV002322776 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037036 SCV001923968 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037036 SCV001956901 benign not specified 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.