ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile)

gnomAD frequency: 0.00102  dbSNP: rs367938510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655445 SCV000777375 likely benign NIK deficiency 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729677 SCV001978107 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729677 SCV001980013 likely benign not provided no assertion criteria provided clinical testing

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