Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242259 | SCV000303518 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000242259 | SCV000966333 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Ala356Ala in exon 7 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 2.8% (122/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs9630). |
Invitae | RCV000860887 | SCV001001063 | benign | Alpha-1-antitrypsin deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000860887 | SCV001279504 | likely benign | Alpha-1-antitrypsin deficiency | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |