Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000029499 | SCV000052150 | uncertain | Cystic fibrosis | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Invitae | RCV000029499 | SCV000284999 | benign | Cystic fibrosis | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000244736 | SCV000304483 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000244736 | SCV000601076 | uncertain significance | not specified | 2017-01-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000244736 | SCV000603043 | benign | not specified | 2019-01-30 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000244736 | SCV000700535 | benign | not specified | 2016-11-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759758 | SCV000889295 | benign | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000029499 | SCV001137483 | likely benign | Cystic fibrosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001158764 | SCV001320419 | uncertain significance | CFTR-related disorders | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |