ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.897A>G (p.Gln299=)

gnomAD frequency: 0.00001  dbSNP: rs201062965
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Total submissions: 4
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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 RCV000612926 SCV000731577 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing p.Gln299Gln in exon 6 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/66480 of Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs201062965).
Labcorp Genetics (formerly Invitae), Labcorp RCV002528778 SCV002931080 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451455 SCV004182935 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451454 SCV004182936 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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