Submissions for variant NM_033337.3(CAV3):c.123T>C (p.Phe41=)

gnomAD frequency: 0.23875  dbSNP: rs13087941

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039797	SCV000063486	benign	not specified	2012-01-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039797	SCV000114280	benign	not specified	2013-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000039797	SCV000167536	benign	not specified	2011-07-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000039797	SCV000315204	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246688	SCV000317410	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000393888	SCV000446406	likely benign	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000366101	SCV000446408	benign	Caveolinopathy	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000271441	SCV000446409	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000039797	SCV000841366	benign	not specified	2017-04-29	criteria provided, single submitter	clinical testing
Invitae	RCV000310948	SCV001000471	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (CAV3)	RCV000024401	SCV000045695	not provided	not provided	2012-04-15	no assertion provided	curation
Genetic Services Laboratory, University of Chicago	RCV000039797	SCV000150541	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000039797	SCV001923501	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039797	SCV001931109	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039797	SCV001957177	benign	not specified		no assertion criteria provided	clinical testing