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

gnomAD frequency: 0.00141  dbSNP: rs77072552

Total submissions: 5

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