ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.99T>C (p.Ala33=) (rs3746964)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116304 SCV000303921 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710499 SCV000840735 benign not provided 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV000029317 SCV001720460 benign Polyglandular autoimmune syndrome, type 1 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000710499 SCV001905005 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029317 SCV000051963 benign Polyglandular autoimmune syndrome, type 1 2010-11-20 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000116304 SCV000150222 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000029317 SCV001452104 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116304 SCV001743244 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116304 SCV001926954 benign not specified no assertion criteria provided clinical testing

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