ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)

gnomAD frequency: 0.00016  dbSNP: rs150406015
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919947 SCV001065302 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195476 SCV001365853 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu4133Glu in Exon 63 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.2% (7/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150406015).
Genome-Nilou Lab RCV003454953 SCV004182004 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274934 SCV004182005 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274934 SCV001459516 uncertain significance Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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