ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile)

gnomAD frequency: 0.00141  dbSNP: rs77072552
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281796 SCV000336087 benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083988 SCV001288982 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083988 SCV000116110 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701745 SCV001929314 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000281796 SCV001966608 benign not specified no assertion criteria provided clinical testing

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