ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.1053+11_1053+12inv

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Total submissions: 4
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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 RCV000155426 SCV000205116 benign not specified 2014-08-19 criteria provided, single submitter clinical testing 1053+11_1053+12delinsTG in intron 11 of MYO3A: This variant is not expected to h ave clinical significance because it is not located within the conserved splice consensus sequence, and has been identified in 46.5% (6041/13006) of European Am erican and African American chromosomes by the NHLBI Exome Sequening Project (ht tp://evs.gs.washington.edu/; dbSNP rs3824697 and rs3824698).
PreventionGenetics, part of Exact Sciences RCV000155426 SCV000312805 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356892 SCV000361916 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002059543 SCV002466752 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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