ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1617C>T (p.Thr539=)

gnomAD frequency: 0.02179  dbSNP: rs34349246
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553808 SCV000652482 benign Immunodeficiency, common variable, 7 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811063 SCV001157232 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000553808 SCV004180427 benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811063 SCV005284823 benign not provided criteria provided, single submitter not provided

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