ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4368-2251CCT[3] (rs397517462)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039747 SCV000063436 likely benign not specified 2013-02-07 criteria provided, single submitter clinical testing p.Pro1752del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been seen in 0.6% (5/878) of control chromosomes (S tabej 2012) and results in an in-frame deletion of a Pro residue in a non-conser ved proline tract.
Eurofins NTD, LLC RCV000415971 SCV000114271 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322408 SCV000363126 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360567 SCV000363127 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415971 SCV000493571 likely benign not provided 2016-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000415971 SCV000570036 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135276)
Invitae RCV000415971 SCV001047495 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000415971 SCV001921678 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415971 SCV001967962 likely benign not provided no assertion criteria provided clinical testing

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