ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) (rs61862390)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039757 SCV000063446 benign not specified 2011-06-29 criteria provided, single submitter clinical testing Pro1787Ser in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because this residue is not highly conserved across species. Of note , rat has a serine at this position. In addition, computational analyses do not suggest a high likelihood of clinical significance and this variant is listed in dbSNP with a heterozygous frequency over 1% (rs61862390).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039757 SCV000114272 benign not specified 2013-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000039757 SCV000170890 benign not specified 2013-05-20 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.
Counsyl RCV000169021 SCV000220167 likely benign Usher syndrome, type 1F 2014-03-18 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000039757 SCV000315070 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343313 SCV000363112 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379328 SCV000363113 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992510 SCV001144882 benign not provided 2019-07-10 criteria provided, single submitter clinical testing

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