ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1096-9G>C

gnomAD frequency: 0.01593  dbSNP: rs113512196
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116293 SCV000150211 benign not specified 2013-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083224 SCV000629940 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000560858 SCV001142977 benign not provided 2018-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000560858 SCV001867570 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000560858 SCV005278166 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001083224 SCV001457184 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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