ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.132+16G>C

dbSNP: rs1272044102
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002205634 SCV002365371 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704708 SCV005207497 likely benign not provided criteria provided, single submitter not provided

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