ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)

dbSNP: rs10418277
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991059 SCV001142164 benign Malignant tumor of prostate 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083968 SCV001289089 uncertain significance Hydatidiform mole, recurrent, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003221803 SCV003918186 benign not provided 2023-02-01 criteria provided, single submitter clinical testing NLRP7: BP4, BS1, BS2
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083968 SCV000116084 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.