ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)

dbSNP: rs1553257707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664642 SCV000788641 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075239 SCV001240853 likely pathogenic Retinal dystrophy 2017-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451628 SCV004182107 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451627 SCV004182108 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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