ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3718-19C>A (rs75248212)

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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,Partners HealthCare Personalized Medicine RCV000039731 SCV000063420 benign not specified 2013-06-01 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000039731 SCV000170888 benign not specified 2012-10-25 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.
Integrated Genetics/Laboratory Corporation of America RCV000587424 SCV000699760 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The PCDH15 c.3718-19C>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 2786/119520 control chromosomes (53 homozygotes) at a frequency of 0.0233099, which is approximately 7 times the estimated maximal expected allele frequency of a pathogenic PCDH15 variant (0.0031623), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories and a reputable database have classified this variant as benign. Taken together, this variant is classified as Benign.

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