ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.589del (p.Ile197fs)

dbSNP: rs1578787945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998248 SCV001154214 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing

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