ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1531-11A>G (rs397517872)

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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 RCV000041255 SCV000064946 likely benign not specified 2012-07-23 criteria provided, single submitter clinical testing 1531-11A>G in intron 17 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved region of the splice consensus sequence.
Counsyl RCV000665853 SCV000790040 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-03-02 criteria provided, single submitter clinical testing

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