Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001080809 | SCV000266797 | benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000247565 | SCV000309988 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000210523 | SCV000525370 | likely benign | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570838 | SCV000664724 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Ce |
RCV000210523 | SCV001154356 | likely benign | not provided | 2025-02-01 | criteria provided, single submitter | clinical testing | SDHA: BP4, BP7 |
Illumina Laboratory Services, |
RCV001157831 | SCV001319436 | uncertain significance | Leigh syndrome | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001157832 | SCV001319437 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001157833 | SCV001319438 | benign | Hereditary pheochromocytoma-paraganglioma | 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. |
Genetic Services Laboratory, |
RCV000247565 | SCV002069748 | likely benign | not specified | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000570838 | SCV002527706 | benign | Hereditary cancer-predisposing syndrome | 2020-11-04 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000247565 | SCV002773961 | benign | not specified | 2021-07-20 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316163 | SCV004015397 | likely benign | Paragangliomas 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000210523 | SCV001744627 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000210523 | SCV001958565 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000210523 | SCV001974442 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000210523 | SCV002037000 | likely benign | not provided | no assertion criteria provided | clinical testing |