ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)

gnomAD frequency: 0.00151  dbSNP: rs184545774
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179377 SCV000170897 benign not specified 2013-06-14 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.
Eurofins Ntd Llc (ga) RCV000179377 SCV000231615 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179377 SCV000248448 benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000457399 SCV000559648 likely benign Developmental and epileptic encephalopathy, 9 2024-01-29 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000457399 SCV000782228 likely benign Developmental and epileptic encephalopathy, 9 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312912 SCV000847573 benign Inborn genetic diseases 2018-05-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000457399 SCV004564150 likely benign Developmental and epileptic encephalopathy, 9 2023-10-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000457399 SCV000734795 likely benign Developmental and epileptic encephalopathy, 9 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573441 SCV001799334 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000179377 SCV001931285 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573441 SCV001965546 likely benign not provided no assertion criteria provided clinical testing

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