Submissions for variant NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)

gnomAD frequency: 0.04986  dbSNP: rs16910526

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455914	SCV000538696	benign	not specified	2016-03-29	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: MAF
Mendelics	RCV000004721	SCV001138646	benign	Familial chronic mucocutaneous candidiasis	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504746	SCV002804575	likely benign	Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to	2022-04-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706445	SCV005233553	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000004721	SCV000024896	pathogenic	Familial chronic mucocutaneous candidiasis	2010-12-09	no assertion criteria provided	literature only
OMIM	RCV000023528	SCV000044819	risk factor	Aspergillosis, susceptibility to	2010-12-09	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003974796	SCV004790226	likely benign	CLEC7A-related disorder	2022-05-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).