ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1550+10T>C (rs200728788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221378 SCV000271161 likely benign not specified 2016-02-04 criteria provided, single submitter clinical testing c.1550+10T>C in Intron 08 of USH2A: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. This variant has been identified in 9/10380 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200728788
Counsyl RCV000664515 SCV000788490 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-17 criteria provided, single submitter clinical testing

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