ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1651C>G (p.Leu551Val)

gnomAD frequency: 0.00001  dbSNP: rs781104363
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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 RCV000700178 SCV000828923 uncertain significance NIK deficiency 2021-08-26 criteria provided, single submitter clinical testing

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