Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252800 | SCV000309826 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000551253 | SCV000644901 | benign | Familial hemophagocytic lymphohistiocytosis 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000551253 | SCV001315059 | benign | Familial hemophagocytic lymphohistiocytosis 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Ce |
RCV001172178 | SCV001335156 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | STX11: BP4, BS2 |
Gene |
RCV001172178 | SCV001815012 | likely benign | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24524345, 30290665, 28399723) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000252800 | SCV002500166 | likely benign | not specified | 2022-03-07 | criteria provided, single submitter | clinical testing | Variant summary: STX11 c.799G>A (p.Val267Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0053 in 247122 control chromosomes in the gnomAD database, including 6 homozygotes. The observed variant frequency is approximately 10 fold of the estimated maximal expected allele frequency for a pathogenic variant in STX11 causing Familial Hemophagocytic Lymphohistiocytosis phenotype (0.0005), strongly suggesting that the variant is benign. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign (n=2) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign. |
Genome Diagnostics Laboratory, |
RCV002262884 | SCV002542971 | likely benign | Autoinflammatory syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000551253 | SCV002804267 | likely benign | Familial hemophagocytic lymphohistiocytosis 4 | 2022-05-25 | criteria provided, single submitter | clinical testing |