Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723683 | SCV000113652 | uncertain significance | not provided | 2017-12-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000194272 | SCV000248527 | likely benign | not specified | 2015-05-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001081971 | SCV000561029 | benign | Developmental and epileptic encephalopathy, 12 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313795 | SCV000848173 | likely benign | Inborn genetic diseases | 2018-12-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Athena Diagnostics | RCV000723683 | SCV001145045 | likely benign | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723683 | SCV001153428 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | PLCB1: BP4, BS2 |
Illumina Laboratory Services, |
RCV001081971 | SCV001300273 | uncertain significance | Developmental and epileptic encephalopathy, 12 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000723683 | SCV001872931 | likely benign | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081971 | SCV002030018 | benign | Developmental and epileptic encephalopathy, 12 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001081971 | SCV003924140 | likely benign | Developmental and epileptic encephalopathy, 12 | 2021-03-30 | criteria provided, single submitter | clinical testing | PLCB1 NM_015192.3 exon 32 p.Leu1184Phe (c.3550C>T): This variant has not been reported in the literature but is present in 0.4% (297/64568) of European alleles in the Genome Aggregation Database, including 2 homozygotes (https://gnomad.broadinstitute.org/variant/20-8881748-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as benign or likely benign (Variation ID:95688). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign. |
Prevention |
RCV003915089 | SCV004736137 | likely benign | PLCB1-related disorder | 2022-02-24 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |