Total submissions: 36
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082055 | SCV000113994 | benign | not specified | 2014-10-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001080524 | SCV000153846 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162949 | SCV000213436 | benign | Hereditary cancer-predisposing syndrome | 2014-11-24 | 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. |
Gene |
RCV000082055 | SCV000234928 | benign | not specified | 2016-09-23 | 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. |
Genomic Diagnostic Laboratory, |
RCV000202663 | SCV000258172 | benign | Multiple endocrine neoplasia | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000162949 | SCV000267090 | benign | Hereditary cancer-predisposing syndrome | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000082055 | SCV000269746 | benign | not specified | 2015-12-09 | criteria provided, single submitter | clinical testing | p.Arg982Cys in exon 18 of RET: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 4% (666/16512) of South Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs17158558). |
Genomic Diagnostic Laboratory, |
RCV000238890 | SCV000297299 | benign | Familial medullary thyroid carcinoma | 2015-09-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082055 | SCV000313724 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000202663 | SCV000362376 | likely benign | Multiple endocrine neoplasia | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000354936 | SCV000362377 | likely benign | Renal hypodysplasia/aplasia 1 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000014965 | SCV000362378 | likely benign | Hirschsprung disease, susceptibility to, 1 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000320112 | SCV000362379 | likely benign | Pheochromocytoma | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Counsyl | RCV000410308 | SCV000489799 | benign | Multiple endocrine neoplasia type 2B | 2016-04-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411820 | SCV000489800 | benign | Multiple endocrine neoplasia type 2A | 2016-04-05 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000411820 | SCV000782261 | uncertain significance | Multiple endocrine neoplasia type 2A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000034774 | SCV000842760 | benign | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000082055 | SCV001363345 | benign | not specified | 2019-12-23 | criteria provided, single submitter | clinical testing | Variant summary: RET c.2944C>T (p.Arg982Cys) results in a non-conservative amino acid change located in the serine-threonine/tyrosine-protein kinase, catalytic domain (IPR001245) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.019 in 251460 control chromosomes in the gnomAD database, including 78 homozygotes. The observed variant frequency is approximately 1299 fold of the estimated maximal expected allele frequency for a pathogenic variant in RET causing Multiple Endocrine Neoplasia Type 2/Hirschsprung Disease phenotype (1.5e-05), strongly suggesting that the variant is benign. c.2944C>T has been reported in the early literature predating large control datasets in individuals reportedly affected with Multiple Endocrine Neoplasia Type 2/Hirschsprung Disease. These report(s) do not provide unequivocal conclusions about association of the variant with Multiple Endocrine Neoplasia Type 2/Hirschsprung Disease with no evidence supporting a damaging outcome in subsequent literature relating to this specific variant. At-least two co-occurrences with other pathogenic variant(s) have been reported (RET c.1852T>C, p.Cys618Arg; RET c.2410G>A, p.Val804Met), providing supporting evidence for a benign role (Mulligan_1994, and Lesueur_2005). At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant Pasini_1995. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign, n=7, likely benign, n=1, VUS, n=1). Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV000034774 | SCV002048343 | benign | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Department of Human Genetics, |
RCV001822995 | SCV002072583 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034774 | SCV002497027 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | RET: BP4, BS1, BS2 |
Sema4, |
RCV000162949 | SCV002529995 | benign | Hereditary cancer-predisposing syndrome | 2020-10-15 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000082055 | SCV002550393 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000410308 | SCV004017339 | benign | Multiple endocrine neoplasia type 2B | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001080524 | SCV004357254 | benign | Multiple endocrine neoplasia, type 2 | 2022-06-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001080524 | SCV004838703 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014965 | SCV000035221 | risk factor | Hirschsprung disease, susceptibility to, 1 | 1998-08-01 | no assertion criteria provided | literature only | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034774 | SCV000043479 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000082055 | SCV000086193 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Human Genomics Unit, |
RCV000736279 | SCV000864577 | uncertain significance | Aganglionic megacolon | 2013-01-01 | no assertion criteria provided | research | |
Center of Medical Genetics and Primary Health Care | RCV001269493 | SCV001449149 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000082055 | SCV001742225 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082055 | SCV001807964 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082055 | SCV001926276 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082055 | SCV001952506 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000034774 | SCV002036341 | likely benign | not provided | no assertion criteria provided | clinical testing |