ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.1469C>T (p.Thr490Ile)

gnomAD frequency: 0.00272  dbSNP: rs4648065
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972725 SCV001120449 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972725 SCV004153032 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing NFKB1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000972725 SCV005301511 benign not provided criteria provided, single submitter not provided

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