ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5858-12A>G (rs727503727)

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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 RCV000152609 SCV000201906 likely benign not specified 2013-12-12 criteria provided, single submitter clinical testing 5858-12A>G in Intron 29 of USH2A: This variant is not expected to have clinical significance because it is not located in the invariant -1/-2 positions of the s plice site consensus sequence and computational tools do not predict an impact t o splicing.
Counsyl RCV000669695 SCV000794472 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-26 criteria provided, single submitter clinical testing

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