ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) (rs111033436)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039693 SCV000063382 benign not specified 2016-09-22 criteria provided, single submitter clinical testing p.Leu347Phe in exon 10 of PCDH15: This variant has not been reported in the lite rature but has now been identified by our laboratory in 5/197 (2.5%) individuals with hearing loss yet none of these individuals had a second PCDH15 variant and one family had an alternate cause of hearing loss. In summary, this data sugges ts that the variant is benign. This variant is not expected to have clinical sig nificance, because it has been identified in 355/66702 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 11033436).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039693 SCV000114264 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
Invitae RCV000969899 SCV001117444 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105070 SCV001261988 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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