ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1587C>T (p.His529=)

gnomAD frequency: 0.00005  dbSNP: rs562409633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655448 SCV000777378 likely benign NIK deficiency 2023-08-10 criteria provided, single submitter clinical testing

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