Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000319654 | SCV000386418 | likely benign | Dyskeratosis congenita, autosomal dominant 3 | 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. 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, |
RCV000372254 | SCV000386419 | likely benign | Revesz syndrome | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000868533 | SCV001009873 | likely benign | Dyskeratosis congenita | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989196 | SCV001139423 | uncertain significance | Autosomal recessive congenital ichthyosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818201 | SCV002070372 | likely benign | not specified | 2021-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000868533 | SCV002678354 | uncertain significance | Dyskeratosis congenita | 2016-04-14 | criteria provided, single submitter | clinical testing | The p.E281K variant (also known as c.841G>A), located in coding exon 6 of the TINF2 gene, results from a G to A substitution at nucleotide position 841. The glutamic acid at codon 281 is replaced by lysine, an amino acid with similar properties. This variant has been reported in one individual with aplastic anemia, leukocytopenia, and normal telomere length (Walne AJ, Blood 2008 Nov; 112(9):3594-600; Vulliamy T, Clin. Genet. 2012 Jan; 81(1):76-81). This variant was previously reported in the SNPDatabase as rs199422322. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.04% (5/12218) total alleles studied, having been observed in 0.13% (5/3914) African American alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Gene |
RCV000032167 | SCV000055746 | not provided | Dyskeratosis congenita, autosomal dominant 1 | no assertion provided | literature only |