ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.600G>A (p.Pro200=)

gnomAD frequency: 0.00015  dbSNP: rs754331960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633441 SCV000754667 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704142 SCV005207499 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000633441 SCV002083864 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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