ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.799-17G>A

dbSNP: rs72650675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490521 SCV001695089 likely benign Polyglandular autoimmune syndrome, type 1 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664900 SCV001879536 likely benign not specified 2021-01-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001664900 SCV002500199 likely benign not specified 2024-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729922 SCV001977955 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729922 SCV001979589 likely benign not provided no assertion criteria provided clinical testing

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