ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.1053+12A>G

gnomAD frequency: 0.47492  dbSNP: rs3824697
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039021 SCV000062699 benign not specified 2012-11-20 criteria provided, single submitter clinical testing 1053+12A>G in Intron 11 of MYO3A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 46.6% (3270/7020) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs3824697).
Illumina Laboratory Services, Illumina RCV000259671 SCV000361917 benign Autosomal recessive nonsyndromic hearing loss 30 2018-01-12 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 RCV001642564 SCV001857162 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000259671 SCV002015895 benign Autosomal recessive nonsyndromic hearing loss 30 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001642564 SCV002481522 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039021 SCV001743322 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039021 SCV001952207 benign not specified no assertion criteria provided clinical testing

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