Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082057 | SCV000113996 | benign | not specified | 2012-08-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001082716 | SCV000153976 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000163272 | SCV000213800 | benign | Hereditary cancer-predisposing syndrome | 2014-11-25 | 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. |
Prevention |
RCV000082057 | SCV000313728 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000407158 | SCV000362246 | benign | Multiple endocrine neoplasia | 2018-01-13 | 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, |
RCV000307088 | SCV000362247 | benign | Hirschsprung disease, susceptibility to, 1 | 2018-01-13 | 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, |
RCV000364069 | SCV000362248 | likely benign | Renal hypodysplasia/aplasia 1 | 2018-01-13 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000267055 | SCV000362249 | benign | Pheochromocytoma | 2018-01-13 | 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 |
RCV000082057 | SCV000514407 | benign | not specified | 2015-05-08 | 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. |
Athena Diagnostics | RCV000712298 | SCV000842761 | benign | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000082057 | SCV000967108 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Val125Val in exon 3 of RET: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.2% (102/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800859). |
ARUP Laboratories, |
RCV000712298 | SCV001472115 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712298 | SCV002497022 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | RET: BS1, BS2 |
Center for Genomic Medicine, |
RCV000082057 | SCV002760461 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003315608 | SCV004017345 | benign | Multiple endocrine neoplasia type 2B | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001082716 | SCV004357217 | benign | Multiple endocrine neoplasia, type 2 | 2022-09-20 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000712298 | SCV005220638 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Human Genomics Unit, |
RCV000736271 | SCV000864568 | benign | Aganglionic megacolon | 2013-01-01 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000082057 | SCV001742013 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082057 | SCV001808562 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082057 | SCV001956008 | benign | not specified | no assertion criteria provided | clinical testing |