ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15298-1176A>G

gnomAD frequency: 0.00059  dbSNP: rs144467375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591149 SCV001816025 uncertain significance Retinitis pigmentosa 39 2021-06-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504642 SCV000598906 likely benign Usher syndrome 2015-01-01 no assertion criteria provided research

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