ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.-5A>G (rs142016527)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828326 SCV000970012 benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155271 SCV000204957 benign not specified 2012-04-30 criteria provided, single submitter clinical testing -5A>G in Exon 02 of PCDH15: This variant is not expected to have clinical signif icance because it has been identified in 1.7% (64/3738) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington

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