ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)

gnomAD frequency: 0.00845  dbSNP: rs34918608
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 RCV000039033 SCV000062711 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ala1032Thr in Exon 27 of MYO3A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (56/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34918608).
Preventiongenetics, part of Exact Sciences RCV000039033 SCV000312814 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039033 SCV000334357 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000970859 SCV000717008 benign not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17344846)
Invitae RCV000970859 SCV001118464 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104287 SCV001261139 benign Autosomal recessive nonsyndromic hearing loss 30 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001104287 SCV001472012 benign Autosomal recessive nonsyndromic hearing loss 30 2023-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001104287 SCV002798884 likely benign Autosomal recessive nonsyndromic hearing loss 30 2021-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970859 SCV003916591 benign not provided 2023-02-01 criteria provided, single submitter clinical testing MYO3A: BS1, BS2

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.