Submissions for variant NM_206933.4(USH2A):c.4758+3A>G (rs117798425)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000599908	SCV000711239	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	c.4758+3A>G in intron 22 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.9% (348/18756) of East Asian c hromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs117798425). ACMG/AMP Criteria applie d: BA1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000599908	SCV000856091	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing
Invitae	RCV000907794	SCV001052521	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000986536	SCV001135554	likely benign	Usher syndrome, type 2A	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Diagnostics Laboratory,Seoul National University Hospital	RCV000144478	SCV000189613	uncertain significance	Leber congenital amaurosis	2014-09-18	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000986536	SCV001455638	benign	Usher syndrome, type 2A	2020-06-24	no assertion criteria provided	clinical testing