Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000347889 | SCV000340432 | likely benign | not specified | 2016-03-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000399248 | SCV000386428 | likely benign | Revesz 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). 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. |
Illumina Laboratory Services, |
RCV000303934 | SCV000386429 | likely benign | Dyskeratosis congenita, autosomal dominant 3 | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000862737 | SCV001003283 | benign | Dyskeratosis congenita | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000862737 | SCV002536475 | benign | Dyskeratosis congenita | 2020-03-26 | criteria provided, single submitter | curation | |
Prevention |
RCV003914887 | SCV004731429 | likely benign | TINF2-related condition | 2023-01-12 | criteria provided, single submitter | 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). |
Gene |
RCV000032163 | SCV000055742 | not provided | Dyskeratosis congenita, autosomal dominant 1 | no assertion provided | literature only |