ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3807-6T>G (rs727504791)

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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 RCV000156110 SCV000205823 uncertain significance not specified 2013-10-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 3807-6T>G varia nt in PCDH15 has not been reported in the literature and data from large populat ion studies is insufficient to assess the frequency of this variant. This varian t is located in the 3' splice region but not in the invariant -1/-2 splice site positions of the splice site consensus sequence. Computational tools do not sugg est an impact to splicing, though this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of this variant can not be determined with certainty; however, based upon the computational data, we lean towards a more likely benign role.
Counsyl RCV000668863 SCV000793536 uncertain significance Usher syndrome, type 1F 2017-08-18 criteria provided, single submitter clinical testing

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