ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.486A>G (p.Thr162=)

gnomAD frequency: 0.04817  dbSNP: rs11246214
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 RCV001514583 SCV001722461 benign Immunodeficiency 39 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718848 SCV005324663 benign not provided criteria provided, single submitter not provided

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