ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11389+9A>T

gnomAD frequency: 0.12571  dbSNP: rs12095085
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Total submissions: 5
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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 RCV000041693 SCV000065389 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041693 SCV000169759 benign not specified 2011-08-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001513474 SCV001156867 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV001513474 SCV001721093 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532784 SCV001748499 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing

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