Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetic, |
RCV000655917 | SCV000777866 | uncertain significance | Familial hemolytic anemia | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001099973 | SCV001256467 | likely benign | Elliptocytosis 2 | 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). 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, |
RCV001099974 | SCV001256468 | uncertain significance | Pyropoikilocytosis, hereditary | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001099975 | SCV001256469 | uncertain significance | Hereditary spherocytosis type 3 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV002534241 | SCV003289579 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002534241 | SCV003799556 | uncertain significance | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002534241 | SCV004125048 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | SPTA1: BP4, BS2 |