ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3501+13A>G

gnomAD frequency: 0.00001  dbSNP: rs727503365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002055999 SCV002398036 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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