ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)

gnomAD frequency: 0.00976  dbSNP: rs78250390
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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 RCV000041911 SCV000065607 benign not specified 2012-02-20 criteria provided, single submitter clinical testing Thr2528Thr in exon 40 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3.2% (119/3738) of A frican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs78250390).
PreventionGenetics, part of Exact Sciences RCV000041911 SCV000317212 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041911 SCV000730473 benign not specified 2017-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000087014 SCV001029862 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450889 SCV004183231 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450888 SCV004183232 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000087014 SCV005280568 benign not provided criteria provided, single submitter not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000087014 SCV000119267 not provided not provided no assertion provided not provided

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