ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.4252-36CTTT[5] (rs372388546)

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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 RCV000155428 SCV000205118 benign not specified 2015-05-17 criteria provided, single submitter clinical testing 4252-16_4252-13delCTTT in Intron 19 of USH2A: This variant is not expected to h ave clinical significance because it does not alter the splice consensus sequenc e and it has been identified in 10.9% (466/4264) African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics,PreventionGenetics RCV000155428 SCV000317203 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399208 SCV000354111 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304777 SCV000354112 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155428 SCV000730468 benign not specified 2018-03-01 no assertion criteria provided 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.

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