Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000128921 | SCV000172790 | benign | Hereditary cancer-predisposing syndrome | 2014-12-22 | 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. |
Labcorp Genetics |
RCV001079357 | SCV000261805 | benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000368190 | SCV000351451 | benign | Carney-Stratakis syndrome | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000275977 | SCV000351452 | benign | Hereditary pheochromocytoma-paraganglioma | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000121999 | SCV000514599 | benign | not specified | 2016-11-09 | 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. |
Laboratory for Molecular Medicine, |
RCV000121999 | SCV000540300 | benign | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Center for Pediatric Genomic Medicine, |
RCV000034690 | SCV000610498 | benign | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000121999 | SCV000859747 | benign | not specified | 2018-03-04 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000755699 | SCV000883132 | benign | Paragangliomas 4 | 2018-11-21 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986270 | SCV001135209 | likely benign | Gastrointestinal stromal tumor | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121999 | SCV001363919 | benign | not specified | 2019-12-23 | criteria provided, single submitter | clinical testing | Variant summary: SDHB c.8C>G (p.Ala3Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0031 in 242034 control chromosomes in the gnomAD database, including 19 homozygotes. The observed variant frequency is approximately over 3000 fold of the estimated maximal expected allele frequency for a pathogenic variant in SDHB causing Pheochromocytoma phenotype (8.8e-07), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.8C>G in individuals affected with Pheochromocytoma and no experimental evidence demonstrating its impact on protein function have been reported. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign/likely benign, n=7). Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV000034690 | SCV001473226 | benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000128921 | SCV002527093 | benign | Hereditary cancer-predisposing syndrome | 2020-04-28 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000121999 | SCV002552285 | benign | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490359 | SCV002804110 | likely benign | Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4 | 2022-03-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034690 | SCV004123318 | benign | not provided | 2025-02-01 | criteria provided, single submitter | clinical testing | SDHB: BS1, BS2 |
Color Diagnostics, |
RCV000755699 | SCV004362288 | benign | Paragangliomas 4 | 2022-06-09 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000034690 | SCV005259526 | likely benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000013632 | SCV000033879 | uncertain significance | Cowden syndrome | 2008-08-01 | no assertion criteria provided | literature only | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034690 | SCV000043487 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121999 | SCV000086210 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Prevention |
RCV004532333 | SCV004740826 | benign | SDHB-related disorder | 2020-01-15 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |