Submissions for variant NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)

gnomAD frequency: 0.00016  dbSNP: rs200247886

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214074	SCV000269948	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing	p.Pro2062Pro in exon 32 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (98/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs200247886).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000906976	SCV001051647	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000906976	SCV001832165	benign	not provided	2019-01-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20507924)
Genome-Nilou Lab	RCV003454565	SCV004181693	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454564	SCV004181694	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000906976	SCV001919945	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000906976	SCV001970803	likely benign	not provided		no assertion criteria provided	clinical testing