ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del) (rs1557720377)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine RCV000680222 SCV000693917 pathogenic Usher syndrome type 1 2017-08-25 criteria provided, single submitter research
OMIM RCV000853554 SCV000996522 pathogenic USHER SYNDROME, TYPE 1M 2019-11-01 no assertion criteria provided literature only

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