Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178916 | SCV000231096 | uncertain significance | not provided | 2014-06-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001071842 | SCV001237170 | likely benign | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001141445 | SCV001301789 | uncertain significance | Congenital dyserythropoietic anemia, type II | 2018-01-13 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV000178916 | SCV004039959 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in a patient with anemia, jaundice, abnormal blood cell morphology, and transfusion dependence (Moreno-Carralero et al., 2018); Identified with another SEC23B variant, phase unknown, in a fetus with increased nuchal transparency in the published literature (Gabriel et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29901818, 34958143) |
ARUP Laboratories, |
RCV000178916 | SCV004564444 | uncertain significance | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004737283 | SCV005348396 | uncertain significance | SEC23B-related disorder | 2024-08-08 | no assertion criteria provided | clinical testing | The SEC23B c.569G>A variant is predicted to result in the amino acid substitution p.Arg190Gln. This variant was reported as a single variant in an individual with dyserythropoietic congenital anemia (Table 3, Moreno-Carralero et al. 2018. PubMed ID: 29901818) and together with second variant in SEC23B in fetus with increased nuchal transparency (Table S1,Gabriel et al. 2021. PubMed ID: 34958143). This variant is reported in 0.071% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |