ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.555C>T (p.Leu185=)

gnomAD frequency: 0.00009  dbSNP: rs191629489
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 RCV000655452 SCV000777382 likely benign NIK deficiency 2023-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424261 SCV004140713 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing MAP3K14: BP4, BP7

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