ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1623G>A (p.Glu541=)

gnomAD frequency: 0.00012  dbSNP: rs146805130
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Total submissions: 7
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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 RCV000214430 SCV000271162 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu541Glu in Exon 09 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs146805130).
Counsyl RCV000664772 SCV000788783 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000919466 SCV001064812 likely benign not provided 2024-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454582 SCV004182514 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454581 SCV004182515 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214430 SCV005184956 likely benign not specified 2024-05-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000919466 SCV005263724 likely benign not provided criteria provided, single submitter not provided

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