Submissions for variant NM_033337.3(CAV3):c.27C>T (p.Leu9=)

gnomAD frequency: 0.08452  dbSNP: rs1974763

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039803	SCV000063492	benign	not specified	2012-04-20	criteria provided, single submitter	clinical testing	Leu9Leu in exon 1 of CAV3: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 12.6% (883/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs1974763).
Eurofins Ntd Llc (ga)	RCV000039803	SCV000114284	benign	not specified	2013-07-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039803	SCV000315208	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000241900	SCV000317409	benign	Cardiovascular phenotype	2015-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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	RCV000379199	SCV000446397	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339745	SCV000446399	benign	Caveolinopathy	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 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	RCV000397797	SCV000446400	likely benign	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576516	SCV000677236	benign	Rippling muscle disease 2; Distal myopathy, Tateyama type	2017-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV000284784	SCV001000470	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000024400	SCV001871857	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (CAV3)	RCV000024400	SCV000045694	not provided	not provided	2012-04-15	no assertion provided	curation
Genetic Services Laboratory, University of Chicago	RCV000039803	SCV000150544	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	RCV000039803	SCV001917104	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039803	SCV001930947	benign	not specified		no assertion criteria provided	clinical testing