Submissions for variant NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)

gnomAD frequency: 0.00077  dbSNP: rs111033525

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041768	SCV000065464	likely benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing	p.Thr4888Thr in exon 67 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been identified in 0.1% (73/67624) of European ch romosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; d bSNP rs111033525).
Eurofins Ntd Llc (ga)	RCV000725431	SCV000336889	uncertain significance	not provided	2018-03-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725431	SCV001049825	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725431	SCV001473247	benign	not provided	2019-11-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725431	SCV001500876	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
GeneDx	RCV000725431	SCV001802157	likely benign	not provided	2019-09-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272930	SCV001455381	uncertain significance	Usher syndrome type 2A	2020-01-08	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725431	SCV002034608	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725431	SCV002038141	likely benign	not provided		no assertion criteria provided	clinical testing