Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082848 | SCV000114900 | benign | not specified | 2013-07-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082848 | SCV000150277 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000082848 | SCV000268787 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Asp89Asp in exon 5 of ANO5: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 20.0% (1723/8598) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4312063). |
Prevention |
RCV000082848 | SCV000317294 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000282244 | SCV000369961 | benign | Miyoshi myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000334993 | SCV000369962 | benign | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082848 | SCV000512053 | benign | not specified | 2015-11-03 | 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. |
Athena Diagnostics Inc | RCV000128783 | SCV000612362 | benign | not provided | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001108717 | SCV001265986 | benign | ANO5-Related Muscle Diseases | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV001520679 | SCV001729847 | benign | Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001553827 | SCV001774894 | benign | Gnathodiaphyseal dysplasia | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001553828 | SCV001774895 | benign | Miyoshi muscular dystrophy 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001553829 | SCV001774896 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2L | 2021-07-14 | criteria provided, single submitter | clinical testing | |
ANO5 @LOVD | RCV000128783 | SCV000172425 | not provided | not provided | no assertion provided | not provided | ||
Diagnostic Laboratory, |
RCV000082848 | SCV001741025 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome |
RCV001535727 | SCV001749828 | not provided | ANO5-Related Disorders | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 11-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. | |
Genome Diagnostics Laboratory, |
RCV000082848 | SCV001808433 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000082848 | SCV001921853 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082848 | SCV001932971 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082848 | SCV001954851 | benign | not specified | no assertion criteria provided | clinical testing |