Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194877 | SCV000247540 | uncertain significance | not specified | 2015-07-23 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000664100 | SCV000787552 | uncertain significance | Monogenic diabetes | 2017-03-24 | criteria provided, single submitter | research | ACMG Criteria:PP3 (3 predictors), BP4 (7 predictors) |
ARUP Laboratories, |
RCV000757347 | SCV000885537 | benign | not provided | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764522 | SCV000895605 | uncertain significance | Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086439 | SCV001006442 | likely benign | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001143929 | SCV001304495 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 4 | 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, |
RCV001086439 | SCV001304496 | uncertain significance | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 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. |
Gene |
RCV000757347 | SCV001768210 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 8687463) |
Ce |
RCV000757347 | SCV004148677 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | HADH: BP4, BS1 |
Prevention |
RCV003907686 | SCV004726673 | likely benign | HADH-related disorder | 2023-12-01 | 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). |