ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)

gnomAD frequency: 0.00159  dbSNP: rs112120466
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Total submissions: 6
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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 RCV000041722 SCV000065418 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile4186Thr in Exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (22/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs112120466).
GeneDx RCV000767175 SCV000572702 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Invitae RCV000767175 SCV001062344 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075259 SCV001240874 uncertain significance Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915003 SCV004728605 likely benign USH2A-related condition 2023-09-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274932 SCV001459514 likely benign Usher syndrome type 2A 2019-11-22 no assertion criteria provided clinical testing

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