ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14583-19G>A

gnomAD frequency: 0.00072  dbSNP: rs55647345
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501886 SCV001706706 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699559 SCV001919087 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001501886 SCV001955659 likely benign not provided no assertion criteria provided clinical testing

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