ClinVar Miner

Submissions for variant NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp)

gnomAD frequency: 0.00011  dbSNP: rs775759727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585219 SCV000693319 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing IL1RAPL1: BS2
GeneDx RCV000585219 SCV002061093 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585219 SCV003226913 benign not provided 2023-03-08 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000585219 SCV001956940 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000585219 SCV001971828 uncertain significance not provided no assertion criteria provided clinical testing

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