Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080638 | SCV000261427 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000393823 | SCV000362226 | likely benign | Pheochromocytoma | 2018-06-04 | 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, |
RCV000311573 | SCV000362227 | likely benign | Multiple endocrine neoplasia | 2018-06-04 | 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, |
RCV000368621 | SCV000362228 | likely benign | Renal hypodysplasia/aplasia 1 | 2018-06-04 | 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, |
RCV000271726 | SCV000362229 | likely benign | Hirschsprung disease, susceptibility to, 1 | 2018-06-04 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000034768 | SCV000610899 | likely benign | not provided | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563975 | SCV000674752 | benign | Hereditary cancer-predisposing syndrome | 2015-01-07 | 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 |
RCV000121986 | SCV000807018 | benign | not specified | 2017-05-04 | criteria provided, single submitter | clinical testing | |
St. |
RCV002307371 | SCV000890954 | likely benign | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000121986 | SCV002067190 | benign | not specified | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563975 | SCV002529960 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-08 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121986 | SCV002572021 | likely benign | not specified | 2022-08-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001080638 | SCV004357215 | benign | Multiple endocrine neoplasia, type 2 | 2022-09-29 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034768 | SCV000043468 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121986 | SCV000086197 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |