Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000507070 | SCV000060171 | benign | not specified | 2015-04-29 | criteria provided, single submitter | clinical testing | c.1210-14_1210-13delTG in intron 9 of CFTR: This variant is not expected to have clinical significance because it has been identified in 47% (582/3375) of Afric an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs3832534). |
CFTR- |
RCV001009358 | SCV001169211 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
Ambry Genetics | RCV001172257 | SCV001170542 | likely benign | Inborn genetic diseases | 2018-10-11 | criteria provided, single submitter | clinical testing | Other strong data |
ARUP Laboratories, |
RCV001618717 | SCV001471898 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001009358 | SCV001717582 | benign | Cystic fibrosis | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618717 | SCV001845462 | benign | not provided | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000507070 | SCV000729761 | benign | not specified | 2018-03-17 | flagged submission | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |