ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1803A>G (p.Arg601=)

gnomAD frequency: 0.00006  dbSNP: rs371145129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001492275 SCV001696883 likely benign NIK deficiency 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706216 SCV005212922 likely benign not provided criteria provided, single submitter not provided

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