Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000326654 | SCV000334718 | uncertain significance | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104372 | SCV001261231 | uncertain significance | Dubin-Johnson syndrome | 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. |
Mayo Clinic Laboratories, |
RCV000326654 | SCV002541100 | uncertain significance | not provided | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001104372 | SCV002779259 | uncertain significance | Dubin-Johnson syndrome | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000326654 | SCV003237137 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003391033 | SCV004111750 | uncertain significance | ABCC2-related condition | 2023-10-25 | criteria provided, single submitter | clinical testing | The ABCC2 c.4430C>T variant is predicted to result in the amino acid substitution p.Thr1477Met. To our knowledge, this variant has not been reported in individuals ABCC2-related disease. Functional studies of this variant found a modest impact on protein function (Megaraj et al. 2011. PubMed ID: 21691255). This variant is reported in 0.20% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including one homozygous individual (http://gnomad.broadinstitute.org/variant/10-101610475-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV000326654 | SCV004127206 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ABCC2: BP4 |