ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.390G>A (p.Gln130=)

gnomAD frequency: 0.39585  dbSNP: rs775883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264946 SCV000414719 benign Hydatidiform mole, recurrent, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455820 SCV000539921 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000264946 SCV000743610 benign Hydatidiform mole, recurrent, 1 2014-10-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717326 SCV005312818 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000264946 SCV000733924 benign Hydatidiform mole, recurrent, 1 no assertion criteria provided clinical testing

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