ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)

dbSNP: rs1553250595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666607 SCV000790926 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-04-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075039 SCV001240650 uncertain significance Retinal dystrophy 2018-05-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451649 SCV004182864 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451648 SCV004182865 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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