ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2643G>A (p.Gln881=)

gnomAD frequency: 0.00001  dbSNP: rs1286317611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840178 SCV000982098 likely benign not provided 2018-03-21 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 RCV000840178 SCV003014979 likely benign not provided 2022-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453767 SCV004182414 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453766 SCV004182415 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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