Submissions for variant NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)

gnomAD frequency: 0.00004  dbSNP: rs771903291

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196594	SCV001367202	pathogenic	Usher syndrome type 2A	2020-01-19	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3. This variant was detected in homozygous state.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268166	SCV001446880	likely pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376445	SCV001573586	likely pathogenic	Retinitis pigmentosa 39	2021-04-08	criteria provided, single submitter	research	The USH2A c.13342_13347del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM3-S, PM4. Based on this evidence we have classified this variant as Likely Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001196594	SCV002576453	likely pathogenic	Usher syndrome type 2A	2022-09-06	criteria provided, single submitter	clinical testing	_x000D_This variant was identified as compound heterozygous with NM_206933.4:c.993_994del. Criteria applied: PM3_STR, PM4, PM2_SUP
Genome-Nilou Lab	RCV001376445	SCV004181876	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001196594	SCV004181877	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing