Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151831 | SCV000200304 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Asp280Asp in exon 5 of SERPINA1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 11.9% (524/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1049800). |
Prevention |
RCV000151831 | SCV000303525 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000151831 | SCV000340032 | benign | not specified | 2016-03-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000290083 | SCV000389649 | likely benign | Alpha-1-antitrypsin deficiency | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000290083 | SCV001733367 | benign | Alpha-1-antitrypsin deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689696 | SCV001912995 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Department of Laboratory Medicine and Genetics, |
RCV000290083 | SCV000608330 | benign | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation |