ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs)

dbSNP: rs1600700389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997001 SCV001152055 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264138 SCV002542486 likely pathogenic Autoinflammatory syndrome 2018-02-01 criteria provided, single submitter clinical testing

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