Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229697 | SCV000290337 | benign | CHARGE syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000243125 | SCV000312947 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Genomic Diagnostic Laboratory, |
RCV000229697 | SCV000328322 | benign | CHARGE syndrome | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000243125 | SCV000331394 | benign | not specified | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000397991 | SCV000474392 | likely benign | Hypogonadotropic hypogonadism 5 with or without anosmia | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Center for Human Genetics, |
RCV000229697 | SCV000781102 | benign | CHARGE syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317769 | SCV000849462 | benign | Inborn genetic diseases | 2017-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Laboratory for Molecular Medicine, |
RCV000243125 | SCV000967054 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Gly522Val in exon 2 of CHD7: This variant is not expected to have clinical sig nificance because it has been identified in 3.10% (265/8554) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs142962579). |
Lupski Lab, |
RCV001002740 | SCV001160735 | benign | Premature ovarian failure | 2019-04-22 | criteria provided, single submitter | research | This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism and obesity. It was considered in conjuction with homozygous variants in MCM9 and PRKD1 as causitive for the phenotype. |
Gene |
RCV001706270 | SCV001896358 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31042289, 30653986, 29304373, 28209183) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000243125 | SCV003928474 | likely benign | not specified | 2023-04-09 | criteria provided, single submitter | clinical testing |