ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2565G>A (p.Ala855=)

gnomAD frequency: 0.24634  dbSNP: rs2076413
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117928 SCV000152204 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117928 SCV000312446 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381132 SCV000435388 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000604714 SCV000743120 benign Developmental and epileptic encephalopathy, 12 2014-10-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712701 SCV000843221 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312216 SCV000846033 benign Inborn genetic diseases 2016-01-08 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.
Invitae RCV000604714 SCV001730242 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000712701 SCV001949368 benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000604714 SCV002030012 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604714 SCV000734085 benign Developmental and epileptic encephalopathy, 12 no assertion criteria provided clinical testing

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