Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155576 | SCV000205278 | benign | not specified | 2015-08-06 | criteria provided, single submitter | clinical testing | p.Arg125His in exon 4 of SERPINA1: This variant is not expected to have clinical significance because it has been identified in 27% (4488/16512) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs709932). |
Prevention |
RCV000155576 | SCV000303520 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000155576 | SCV000345157 | benign | not specified | 2016-08-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000310904 | SCV000389655 | benign | Alpha-1-antitrypsin deficiency | 2018-03-06 | 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. |
Labcorp Genetics |
RCV000310904 | SCV001729056 | benign | Alpha-1-antitrypsin deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636605 | SCV001849744 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22426792, 27153395, 2339709, 20981092, 14551891, 2901226) |
Ambry Genetics | RCV002345248 | SCV002622158 | benign | Inborn genetic diseases | 2017-08-02 | 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. |
Fulgent Genetics, |
RCV000310904 | SCV002808178 | benign | Alpha-1-antitrypsin deficiency | 2022-01-27 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001636605 | SCV005293377 | benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000019557 | SCV000039854 | other | PI M2 | 2016-07-15 | no assertion criteria provided | literature only | |
OMIM | RCV000019559 | SCV000039856 | other | PI M4 | 2016-07-15 | no assertion criteria provided | literature only | |
Department of Laboratory Medicine and Genetics, |
RCV000310904 | SCV000608314 | benign | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation | |
Diagnostic Laboratory, |
RCV000310904 | SCV000733414 | benign | Alpha-1-antitrypsin deficiency | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000155576 | SCV001974857 | benign | not specified | no assertion criteria provided | clinical testing |