ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1560C>T (p.Asn520=)

gnomAD frequency: 0.00010  dbSNP: rs369325118
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 RCV001423878 SCV001626467 likely benign NIK deficiency 2023-09-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706130 SCV005212923 likely benign not provided criteria provided, single submitter not provided

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