Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Biesecker Lab/Clinical Genomics Section, |
RCV000172548 | SCV000050946 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
| Laboratory for Molecular Medicine, |
RCV000150689 | SCV000198048 | uncertain significance | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg605Gln var iant in EYA4 has been identified by our laboratory in two individuals with heari ng loss. However, in one of these individuals, an alternate genetic etiology of the hearing loss was identified. It was also identified in an unaffected parent. This variant has been identified in 14/18840 East Asian chromosomes by the Geno me Aggregation Database (gnomAD, http://http://gnomad.broadinstitute.org; dbSNP rs143208937). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analy sis do not provide strong evidence for or against an impact to the protein. In s ummary, while the clinical significance of the p.Arg605Gln variant is uncertain, available data suggest that it is more likely to be benign. ACMG/AMP Criteria a pplied: BP5. |
| Illumina Laboratory Services, |
RCV000276566 | SCV000460392 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 10 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Illumina Laboratory Services, |
RCV000313007 | SCV000460393 | uncertain significance | Dilated cardiomyopathy 1J | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV000172548 | SCV001789054 | likely benign | not provided | 2020-07-22 | criteria provided, single submitter | clinical testing |