ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1197T>C (p.Ala399=) (rs1800521)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116299 SCV000303913 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116299 SCV000612305 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV001273732 SCV001720463 benign Polyglandular autoimmune syndrome, type 1 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116299 SCV000150217 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. RCV001273732 SCV001457185 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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