ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.880A>C (p.Lys294Gln)

gnomAD frequency: 0.00127  dbSNP: rs113278485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655446 SCV000777376 likely benign NIK deficiency 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411557 SCV004140712 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MAP3K14: BP4
Breakthrough Genomics, Breakthrough Genomics RCV003411557 SCV005212930 likely benign not provided criteria provided, single submitter not provided

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