ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1143+12C>T (rs727505167)

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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 RCV000156643 SCV000206364 likely benign not specified 2014-06-24 criteria provided, single submitter clinical testing 1143+12C>T in intron 6 of USH2A: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence, and it is not predicted to impact splicing.
Counsyl RCV000666853 SCV000791215 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-03 criteria provided, single submitter clinical testing

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