ClinVar Miner

Submissions for variant NM_007199.3(IRAK3):c.1461del (p.Asn487fs)

gnomAD frequency: 0.00071  dbSNP: rs776951445
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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 RCV000966230 SCV001113525 likely benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. RCV000201309 SCV000222730 uncertain significance Hirschsprung disease, susceptibility to, 1 2015-04-01 no assertion criteria provided research
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001778770 SCV002014791 risk factor Multisystem inflammatory syndrome in children 2021-11-14 no assertion criteria provided research

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