Submissions for variant NM_206933.4(USH2A):c.2094C>T (p.Thr698=)

gnomAD frequency: 0.00112  dbSNP: rs141489104

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591302	SCV000701873	likely benign	not specified	2016-11-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000591302	SCV000711242	benign	not specified	2016-12-22	criteria provided, single submitter	clinical testing	p.Thr698Thr in Exon 12 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.5% (48/10398) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs141489104).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000915960	SCV001061187	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000915960	SCV001786359	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451341	SCV004182459	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451340	SCV004182460	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000915960	SCV005263717	likely benign	not provided		criteria provided, single submitter	not provided