Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595565 | SCV000703423 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001163201 | SCV001325216 | uncertain significance | Citrullinemia type II | 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). 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. |
Invitae | RCV002057271 | SCV002389153 | likely benign | Citrin deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475850 | SCV004203609 | likely pathogenic | Citrullinemia, type II, adult-onset | 2023-10-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909878 | SCV004726114 | uncertain significance | SLC25A13-related condition | 2024-01-26 | criteria provided, single submitter | clinical testing | The SLC25A13 c.1505C>T variant is predicted to result in the amino acid substitution p.Pro502Leu. This variant has been reported in a patient with questionable diagnosis of neonatal intrahepatic cholestasis and was shown in functional studies to be fully functional (Wongkittichote et al. 2013. PubMed ID: 21507300; Wen et al. 2011. PubMed ID: 23053473). This variant is reported in 0.17% to 0.20% of alleles, including one homozygous, in individuals of Ashkenazi Jewish descent in gnomAD datasets. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence. |
Shenzhen Institute of Pediatrics, |
RCV000239389 | SCV000297736 | likely pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | 2009-07-31 | no assertion criteria provided | clinical testing |