Submissions for variant NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=)

gnomAD frequency: 0.03784  dbSNP: rs73055288

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368287	SCV000414695	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV001293262	SCV001481854	likely benign	Hydatidiform mole	2021-02-22	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV004703807	SCV005205997	likely benign	not provided		criteria provided, single submitter	not provided