Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507587 | SCV000601265 | uncertain significance | not specified | 2021-05-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756242 | SCV000883992 | uncertain significance | not provided | 2018-02-07 | criteria provided, single submitter | clinical testing | The HBB c.274C>T; Leu91Leu variant (rs769583496) has been observed in Korean and Japanese individuals harboring a pathogenic allele (Park 2002, Wakamatsu 1994); it is not definitive whether these variants were confirmed to be in cis by molecular analyses, but they are reported as linked variants in the Japanese population. Erythrocyte indices (Hb, HbA2, HbF, MCV, MCH) in four individuals reported by Wakamatsu et al are most consistent with beta-thalassemia minor. This variant is reported in ClinVar (Variation ID: 439144) and is observed in the general population at a low overall frequency of 0.003% (7/246192 alleles, 6 alleles in East Asian population) in the Genome Aggregation Database. This is a synonymous change, the nucleotide is moderately conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict that this variant may impact splicing by strengthening a nearby cryptic donor site. However, given the lack of clinical and functional data, the significance of this variant on its own cannot be determined with certainty. References: Park S et al. Beta-thalassemia in the Korean population. Hemoglobin. 2002 May;26(2):135-45. Wakamatsu C et al. Molecular basis of beta-thalassemia in Japan: heterogeneity and origins of mutations. Acta Haematol. 1994;91(3):136-43. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000507587 | SCV000919465 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000756242 | SCV001013881 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104255 | SCV001261105 | uncertain significance | Fetal hemoglobin quantitative trait locus 1 | 2017-04-28 | 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, |
RCV001104256 | SCV001261106 | uncertain significance | Hemoglobin E | 2017-04-28 | 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, |
RCV001104257 | SCV001261107 | uncertain significance | beta Thalassemia | 2017-04-28 | 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, |
RCV001104258 | SCV001261108 | uncertain significance | Hb SS disease | 2017-04-28 | 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. |