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
Counsyl RCV000665853 SCV000790040 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-03-02 criteria provided, single submitter clinical testing
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.

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