ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.588C>T (p.Ser196=) (rs878081)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116301 SCV000303918 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116301 SCV000612311 benign not specified 2012-07-27 criteria provided, single submitter clinical testing
Invitae RCV001271172 SCV001729974 benign Polyglandular autoimmune syndrome, type 1 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001271172 SCV001761836 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001682802 SCV001902328 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116301 SCV000150219 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. RCV001271172 SCV001452109 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116301 SCV001743173 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116301 SCV001929988 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116301 SCV001958629 benign not specified no assertion criteria provided clinical testing

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