Submissions for variant NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)

gnomAD frequency: 0.00701  dbSNP: rs34884895

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038099	SCV000055172	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038099	SCV000061765	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Thr2767Asn in Exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 2.3% (87/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs34884895).
GeneDx	RCV000038099	SCV000168271	benign	not specified	2014-01-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232363	SCV000288549	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000377767	SCV000465246	likely benign	Woolly hair-skin fragility syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271557	SCV000465247	likely benign	Epidermolysis bullosa simplex due to plakophilin deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329012	SCV000465248	likely benign	Lethal acantholytic epidermolysis bullosa	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381329	SCV000465249	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770250	SCV000901681	benign	Cardiomyopathy	2023-06-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770250	SCV000904535	benign	Cardiomyopathy	2018-07-22	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853000	SCV000995754	benign	Hypertrophic cardiomyopathy; Systolic heart failure	2019-06-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811269	SCV001471687	benign	not provided	2021-05-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490518	SCV002801932	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	2021-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811269	SCV004163060	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	DSP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001811269	SCV005222760	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000038099	SCV001922045	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038099	SCV001932293	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038099	SCV001955607	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038099	SCV001968617	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000770250	SCV003802960	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing