ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.326+10G>A

gnomAD frequency: 0.00079  dbSNP: rs372339711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655450 SCV000777380 benign NIK deficiency 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729678 SCV001978288 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729678 SCV001980034 likely benign not provided no assertion criteria provided clinical testing

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