ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1645-8del

dbSNP: rs763490382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841278 SCV000983237 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.
Invitae RCV000841278 SCV001718156 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446480 SCV004172199 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446479 SCV004172200 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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