ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1122T>C (p.Thr374=)

gnomAD frequency: 0.00001  dbSNP: rs56284014
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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 RCV001444018 SCV001647011 likely benign NIK deficiency 2020-08-20 criteria provided, single submitter clinical testing

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