ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.652+14C>T (rs41277546)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710496 SCV000840730 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595668 SCV000706779 benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029315 SCV000051961 uncertain Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000029315 SCV000629957 benign Polyglandular autoimmune syndrome, type 1 2017-07-31 criteria provided, single submitter clinical testing

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