Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000262990 | SCV000360795 | likely benign | Craniosynostosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000315856 | SCV000360796 | likely benign | Jackson-Weiss syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000372710 | SCV000360797 | likely benign | Isolated coronal synostosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000275939 | SCV000360798 | likely benign | Saethre-Chotzen syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000334006 | SCV000360799 | likely benign | Levy-Hollister syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000386154 | SCV000360800 | likely benign | Crouzon syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000294254 | SCV000360801 | likely benign | Pfeiffer syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000346874 | SCV000360802 | likely benign | Beare-Stevenson cutis gyrata syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385163 | SCV000360803 | likely benign | Acrocephalosyndactyly type I | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148705 | SCV003837438 | uncertain significance | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 274 amino acids are replaced with 39 different amino acids; however, the majority of reported variants in this gene result in a gain-of-function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene |
Ce |
RCV003148705 | SCV004134762 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | FGFR2: BS1 |