ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3188+8C>T

gnomAD frequency: 0.89617  dbSNP: rs2327089
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117932 SCV000152208 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117932 SCV000203291 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117932 SCV000312451 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398026 SCV000435397 benign Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000601534 SCV000743122 benign Developmental and epileptic encephalopathy, 12 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712704 SCV000843224 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000601534 SCV001725005 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000712704 SCV001829909 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601534 SCV002030014 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321596 SCV002608129 benign Inborn genetic diseases 2016-05-31 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000117932 SCV005087281 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000712704 SCV005311780 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601534 SCV000734087 benign Developmental and epileptic encephalopathy, 12 no assertion criteria provided clinical testing

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