Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000341506 | SCV000340827 | uncertain significance | not provided | 2016-04-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001162517 | SCV001324472 | 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. |
Invitae | RCV001305488 | SCV001494824 | benign | CHARGE association | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000341506 | SCV001766280 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25996639) |
Ambry Genetics | RCV002365319 | SCV002658671 | uncertain significance | Inborn genetic diseases | 2018-02-08 | criteria provided, single submitter | clinical testing | The p.P2083S variant (also known as c.6247C>T), located in coding exon 30 of the CHD7 gene, results from a C to T substitution at nucleotide position 6247. The proline at codon 2083 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |