ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)

gnomAD frequency: 0.00422  dbSNP: rs73090721
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Total submissions: 8
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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 RCV000155400 SCV000205087 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Cys3153Cys in Exon 48 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.6% (59/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs73090721)."
GeneDx RCV000965589 SCV000515235 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Invitae RCV000965589 SCV001112859 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505172 SCV002805370 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2022-05-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000965589 SCV004125604 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003453173 SCV004182687 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831965 SCV004182688 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831965 SCV002088401 benign Usher syndrome type 2A 2019-12-10 no assertion criteria provided clinical testing

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