ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8845+9G>C

dbSNP: rs748060796
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Total submissions: 1
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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 RCV000217468 SCV000271180 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing c.8845+9G>C in intron 44 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 1/66680 European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org).

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