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

dbSNP: rs10418277

Total submissions: 4

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