Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222856 | SCV000269066 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ser395Asn in exon 5 of EDNRB: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (119/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs5352). |
Prevention |
RCV000222856 | SCV000302327 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000356259 | SCV000384810 | likely benign | Hirschsprung Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory of Human Genetics, |
RCV000626404 | SCV000678739 | likely benign | Waardenburg syndrome type 2A | 2017-03-01 | criteria provided, single submitter | research | |
EGL Genetic Diagnostics, |
RCV000222856 | SCV000707740 | benign | not specified | 2017-05-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000222856 | SCV000727101 | likely benign | not specified | 2017-09-28 | criteria provided, single submitter | 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. |
Center for Human Genetics, |
RCV000659497 | SCV000781315 | likely benign | Waardenburg syndrome type 4A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018118 | SCV000038397 | risk factor | Hirschsprung disease 2 | 1999-04-01 | no assertion criteria provided | literature only |