ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.741C>T (p.Asp247=)

gnomAD frequency: 0.00002  dbSNP: rs754605998
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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 RCV002217474 SCV002370593 likely benign NIK deficiency 2021-11-27 criteria provided, single submitter clinical testing

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