ClinVar Miner

Submissions for variant NM_033056.3(PCDH15):c.1917+33_1917+34dup

dbSNP: rs5785040
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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, Mass General Brigham Personalized Medicine RCV000218888 SCV000269623 benign not specified 2014-12-08 criteria provided, single submitter clinical testing c.1917+13GT[12] in intron 15 of PCDH15: This variant is not expected to have cli nical significance because it is not located within the splice consensus sequenc e. It has been detected in 17.5% (8259/47276) of chromosomes across several dive rse populations by the Exome Aggregate Consortium (http://exac.broadinstitute.or g/variant/10-55892600-T-TAC).
GeneDx RCV001712322 SCV001940179 benign not provided 2019-08-13 criteria provided, single submitter clinical testing

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