Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082048 | SCV000113983 | benign | not specified | 2016-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131068 | SCV000185998 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | 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. |
Laboratory for Molecular Medicine, |
RCV000082048 | SCV000200116 | benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | This "variant" is a RefSeq error. G at this position is the major allele with an allele frequency of 70% in gnomAD (http://gnomad.broadinstitute.org/variant/10- 43606687-A-G). |
Prevention |
RCV000082048 | SCV000313712 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000265973 | SCV000362295 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000321087 | SCV000362296 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000380264 | SCV000362297 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000285939 | SCV000362298 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Labcorp Genetics |
RCV000548337 | SCV000658401 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811384 | SCV001158791 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001795149 | SCV002033565 | benign | Multiple endocrine neoplasia type 2A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001795150 | SCV002033566 | benign | Multiple endocrine neoplasia type 2B | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000321087 | SCV002033567 | benign | Pheochromocytoma | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV000548337 | SCV002761957 | benign | Multiple endocrine neoplasia, type 2 | 2019-08-06 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001795150 | SCV004017333 | benign | Multiple endocrine neoplasia type 2B | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000548337 | SCV004357229 | benign | Multiple endocrine neoplasia, type 2 | 2019-03-28 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001811384 | SCV005319276 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000082048 | SCV001740712 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082048 | SCV001932081 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082048 | SCV001954706 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000082048 | SCV001965139 | benign | not specified | no assertion criteria provided | clinical testing |