ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)

gnomAD frequency: 0.00545  dbSNP: rs78576418
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Total submissions: 11
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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 RCV000041755 SCV000065451 benign not specified 2013-02-06 criteria provided, single submitter clinical testing Thr4742Thr in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and has been identifi ed in 1.8% (80/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/).
Athena Diagnostics RCV000714159 SCV000844842 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714159 SCV001038581 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041755 SCV001157349 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000714159 SCV001905413 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450787 SCV004183089 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450786 SCV004183090 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000714159 SCV005287598 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000041755 SCV001921841 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041755 SCV001953009 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041755 SCV001971805 benign not specified no assertion criteria provided clinical testing

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