Submissions for variant NM_004415.4(DSP):c.2091A>G (p.Gly697=)

gnomAD frequency: 0.76849  dbSNP: rs2076304

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038004	SCV000061670	benign	not specified	2011-07-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246677	SCV000317613	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845410	SCV000987476	benign	not provided		criteria provided, single submitter	clinical testing
Invitae	RCV001519751	SCV001728676	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659961	SCV001875728	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659964	SCV001875729	benign	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659963	SCV001875730	benign	Lethal acantholytic epidermolysis bullosa	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659960	SCV001875731	benign	Keratosis palmoplantaris striata 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659962	SCV001875732	benign	Woolly hair-skin fragility syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003531930	SCV004363319	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000845410	SCV001552970	uncertain significance	not provided		no assertion criteria provided	clinical testing	multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 83.525% in gnomAD_ExomesFounderPop) based on the frequency threshold of 0.5% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.A synonymous variant not located in a splice region.1 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000038004	SCV001742846	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038004	SCV001921014	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038004	SCV001965482	benign	not specified		no assertion criteria provided	clinical testing