Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000226263 | SCV000288324 | benign | Neuroblastoma, susceptibility to, 3 | 2025-01-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000507604 | SCV000602466 | uncertain significance | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000226263 | SCV001302366 | likely benign | Neuroblastoma, susceptibility to, 3 | 2018-01-12 | 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. |
Sema4, |
RCV002256160 | SCV002528416 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-12 | criteria provided, single submitter | curation | |
Gene |
RCV002305468 | SCV002599731 | uncertain significance | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (Harismendy et al., 2013); This variant is associated with the following publications: (PMID: 25054154, 24326041) |
Revvity Omics, |
RCV002305468 | SCV004238571 | uncertain significance | not provided | 2023-03-16 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002305468 | SCV005411659 | uncertain significance | not provided | 2024-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002256160 | SCV005590421 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-12-06 | criteria provided, single submitter | clinical testing | The p.E717K variant (also known as c.2149G>A), located in coding exon 12 of the ALK gene, results from a G to A substitution at nucleotide position 2149. The glutamic acid at codon 717 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
Fulgent Genetics, |
RCV000226263 | SCV005656248 | likely benign | Neuroblastoma, susceptibility to, 3 | 2024-03-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955342 | SCV004774155 | likely benign | ALK-related disorder | 2020-09-14 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |