Submissions for variant NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)

gnomAD frequency: 0.48497  dbSNP: rs1064074

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041279	SCV000064970	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041279	SCV000316312	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000988495	SCV000369465	benign	Usher syndrome type 1C	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics	RCV000988495	SCV001138240	benign	Usher syndrome type 1C	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001512208	SCV001719580	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988495	SCV001754942	benign	Usher syndrome type 1C	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537986	SCV001754943	benign	Autosomal recessive nonsyndromic hearing loss 18A	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001512208	SCV001861256	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000988495	SCV001454052	benign	Usher syndrome type 1C	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041279	SCV001741470	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041279	SCV001958466	benign	not specified		no assertion criteria provided	clinical testing