ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2169G>A (p.Gly723=)

gnomAD frequency: 0.00001  dbSNP: rs751156464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841488 SCV000983456 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000841488 SCV002416778 likely benign not provided 2023-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453769 SCV004182455 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453768 SCV004182456 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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