Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195992 | SCV000250118 | benign | not specified | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1 |
Laboratory for Molecular Medicine, |
RCV000195992 | SCV000269099 | benign | not specified | 2015-07-16 | criteria provided, single submitter | clinical testing | c.5675-9delC in intron 44 of FBN2: This variant is not expected to have clinical significance because it has been identified in 23% (1548/6764) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs112666443). |
Prevention |
RCV000195992 | SCV000308626 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000195992 | SCV000332647 | benign | not specified | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000317758 | SCV000452576 | benign | Congenital contractural arachnodactyly | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000317758 | SCV000563025 | benign | Congenital contractural arachnodactyly | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000195992 | SCV003929268 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing |