Submissions for variant NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)

gnomAD frequency: 0.00343  dbSNP: rs58257972

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV000710325	SCV000840513	benign	Usher syndrome	2018-09-17	reviewed by expert panel	curation	The filtering allele frequency of the p.Ser5188Gly variant in the USH2A gene is 6.8% (2200/30782) of South Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041791	SCV000065487	benign	not specified	2010-05-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041791	SCV000232412	benign	not specified	2014-05-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000986512	SCV001135527	benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001509628	SCV001472468	benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
Invitae	RCV001509628	SCV001716451	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001509628	SCV001858341	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25356976)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041791	SCV002104155	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504926	SCV002803626	benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-05-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887903	SCV004707179	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV000986512	SCV001461986	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001509628	SCV001798723	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041791	SCV001956694	benign	not specified		no assertion criteria provided	clinical testing