ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) (rs709932)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000310904 SCV000608314 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000310904 SCV000733414 benign Alpha-1-antitrypsin deficiency no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155576 SCV000345157 benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310904 SCV000389655 likely benign Alpha-1-antitrypsin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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.broadinstitute.org; dbSNP rs709932).
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
PreventionGenetics RCV000155576 SCV000303520 benign not specified criteria provided, single submitter clinical testing

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