ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.573A>G (p.Val191=)

gnomAD frequency: 0.02039  dbSNP: rs73102592
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041866 SCV000065562 benign not specified 2010-08-17 criteria provided, single submitter clinical testing Val191Val in exon 3 of USH2A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs73102592 - no frequency data), and is rep orted as benign in one publication (Bernal 2005).
Invitae RCV000953435 SCV001100008 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097447 SCV001253729 benign Usher syndrome type 2A 2019-03-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001097448 SCV001253730 benign Retinitis pigmentosa 2019-03-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000953435 SCV001885726 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000953435 SCV003800315 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450857 SCV004182971 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001097447 SCV004182972 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888400 SCV004708082 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001097447 SCV001457331 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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