ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1479G>A (p.Leu493=)

gnomAD frequency: 0.00001  dbSNP: rs1368301656
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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 RCV002090204 SCV002321448 likely benign NIK deficiency 2023-01-19 criteria provided, single submitter clinical testing

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