ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11231+45C>T

gnomAD frequency: 0.06476  dbSNP: rs17025373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532785 SCV001748500 likely benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001619941 SCV001844748 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619941 SCV005261747 likely benign not provided criteria provided, single submitter not provided

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