ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.561T>C (p.Val187=)

gnomAD frequency: 0.00010  dbSNP: rs137949295
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 RCV002169904 SCV002338329 likely benign Immunodeficiency 67 2021-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706283 SCV005216695 likely benign not provided criteria provided, single submitter not provided

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