Submissions for variant NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)

dbSNP: rs773379163

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000666974	SCV000791355	uncertain significance	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-05-08	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001724123	SCV001950403	uncertain significance	Retinitis pigmentosa	2021-04-01	criteria provided, single submitter	curation	The p.Asp3112_Arg3119del variant in USH2A was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PM4, PM3-P. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Genome-Nilou Lab	RCV003451658	SCV004182702	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451657	SCV004182703	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing