Submissions for variant NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) (rs10864219)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000041888	SCV000065584	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000041888	SCV000169746	benign	not specified	2013-08-22	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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000041888	SCV000229757	benign	not specified	2014-06-26	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000041888	SCV000317209	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000041888	SCV000884838	benign	not specified	2018-07-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000986530	SCV001135547	benign	Usher syndrome, type 2A	2019-05-28	criteria provided, single submitter	clinical testing