ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3501+13A>G (rs727503365)

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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 RCV000151626 SCV000199846 likely benign not specified 2014-08-19 criteria provided, single submitter clinical testing 3501+13A>G in intron 26 of PCDH15: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
Counsyl RCV000668536 SCV000793157 likely benign Usher syndrome, type 1F 2017-08-02 criteria provided, single submitter clinical testing

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