ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11048-1G>A

dbSNP: rs111033414
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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 RCV000041686 SCV000065382 pathogenic Rare genetic deafness 2010-06-13 no assertion criteria provided clinical testing

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