Submissions for variant NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)

gnomAD frequency: 0.04165  dbSNP: rs41277194

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041946	SCV000065642	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041946	SCV000230761	benign	not specified	2014-05-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756877	SCV000884841	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000756877	SCV001146622	benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing
Invitae	RCV000756877	SCV001716544	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273705	SCV001750315	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000756877	SCV001941378	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273705	SCV001457075	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041946	SCV001956573	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041946	SCV001973716	benign	not specified		no assertion criteria provided	clinical testing