ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) (rs78250390)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 (; dbSNP rs78250390).
PreventionGenetics,PreventionGenetics 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.
Invitae RCV000087014 SCV001029862 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087014 SCV000119267 not provided not provided no assertion provided not provided

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