ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) (rs12404427)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041910 SCV000065606 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041910 SCV000114882 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000041910 SCV000169751 benign not specified 2013-01-07 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.
PreventionGenetics,PreventionGenetics RCV000041910 SCV000317211 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001513893 SCV001721594 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001274240 SCV001750320 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274240 SCV001458120 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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