ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)

gnomAD frequency: 0.00418  dbSNP: rs111033505
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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 RCV000041703 SCV000065399 benign not specified 2013-11-26 criteria provided, single submitter clinical testing Leu3932Leu in exon 61 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (58/4406) African American ch romosomes by the Exome Sequencing Project (rs111033505)
Invitae RCV000955866 SCV001102599 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000955866 SCV001146596 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000955866 SCV001892188 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450754 SCV004182071 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450753 SCV004182072 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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