ClinVar Miner

Submissions for variant NM_017852.5(NLRP2):c.1586C>T (p.Thr529Ile)

dbSNP: rs113752373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816251 SCV002063821 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001816251 SCV005194825 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931347 SCV004739730 benign NLRP2-related disorder 2019-03-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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