Submissions for variant NM_004415.4(DSP):c.423-16_423-15insC

gnomAD frequency: 0.03015  dbSNP: rs113028223

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038037	SCV000061703	likely benign	not specified	2012-05-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000588213	SCV000233534	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038037	SCV000310359	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588213	SCV000698435	benign	not provided	2016-11-22	criteria provided, single submitter	clinical testing	Variant summary: The DSP c.423-16_423-15insC variant involves the insetion of an intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1200/120544 control chromosomes (58 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.1054381 (1047/9930). This frequency is about 4217 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae	RCV002054685	SCV002409366	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000588213	SCV001743499	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038037	SCV001925434	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038037	SCV001929023	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038037	SCV001973501	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003125858	SCV003802964	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing