ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.180C>T (p.Phe60=)

gnomAD frequency: 0.00004  dbSNP: rs772718686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001393653 SCV001595324 likely benign Immunodeficiency 39 2022-10-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000977142 SCV001927608 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000977142 SCV001968035 likely benign not provided no assertion criteria provided clinical testing

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