ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.504C>T (p.Ala168=)

gnomAD frequency: 0.00006  dbSNP: rs201641200
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000970731 SCV001118325 benign Immunodeficiency 39 2023-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718800 SCV005324662 benign not provided criteria provided, single submitter not provided

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