ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)

gnomAD frequency: 0.00031  dbSNP: rs373993732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633442 SCV000754668 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691968 SCV005195169 uncertain significance not provided criteria provided, single submitter not provided
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004691968 SCV005200789 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV000633442 SCV002076124 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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