Submissions for variant NM_206933.4(USH2A):c.10062G>C (p.Val3354=)

gnomAD frequency: 0.00020  dbSNP: rs200172376

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152583	SCV000201846	benign	not specified	2017-12-14	criteria provided, single submitter	clinical testing	Val3354Val in Exon 51 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1% (348/30782) of So uth Asian chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200172376).
GeneDx	RCV000838528	SCV000980398	benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV000838528	SCV001057077	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000838528	SCV004125602	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
Genome-Nilou Lab	RCV003453118	SCV004182602	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001831943	SCV004182603	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000838528	SCV001924364	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000838528	SCV001975696	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831943	SCV002088372	benign	Usher syndrome type 2A	2019-12-16	no assertion criteria provided	clinical testing