ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.219C>T (p.Ala73=)

gnomAD frequency: 0.00049  dbSNP: rs4648003
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 RCV000909244 SCV001054040 likely benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000909244 SCV005260257 likely benign not provided criteria provided, single submitter not provided

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