ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) (rs1049800)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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).
PreventionGenetics,PreventionGenetics RCV000151831 SCV000303525 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000151831 SCV000340032 benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina 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 2020-12-04 criteria provided, single submitter clinical testing
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000290083 SCV000608330 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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