Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000390634 | SCV000474455 | likely benign | Hypogonadotropic hypogonadism 5 with or without anosmia | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Laboratory for Molecular Medicine, |
RCV000825306 | SCV000966601 | uncertain significance | not specified | 2018-03-29 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ala1814Thr va riant in CHD7 has been reported in 1 individual with a sex development disorder (Eggers 2016), but has not been reported in individuals with hearing loss or CHA RGE syndrome. This variant has also been reported in Clin Var (Variation ID# 363 467). It has also been identified in 18/276340 total chromosomes by the Genome A ggregation Database (nomad, http://gnomad.broadinstitute.org/; dbSNP rs368609862 ). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that the p.Ala1814Thr variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, while the clinical significance of the p.Ala1814Thr variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BP4. |
| Labcorp Genetics |
RCV001861325 | SCV002131866 | benign | CHARGE syndrome | 2025-01-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002348115 | SCV002649073 | likely benign | Inborn genetic diseases | 2017-09-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
| Revvity Omics, |
RCV003144242 | SCV003831971 | uncertain significance | not provided | 2021-09-07 | criteria provided, single submitter | clinical testing |