Submissions for variant NM_004415.4(DSP):c.741= (p.Ala247=)

gnomAD frequency: 0.99917  dbSNP: rs2806234

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038088	SCV000061754	likely benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	Ala247Ala in Exon 06 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.2% (13/7020) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs2806234). Ala247Ala in Exon 06 of DSP (allele frequency = 0.2%, 13/7020; dbSNP rs2806234) **
Ambry Genetics	RCV000241891	SCV000317612	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing
Invitae	RCV001519750	SCV001728675	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	RCV000038088	SCV001741867	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038088	SCV001918107	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038088	SCV001964244	benign	not specified		no assertion criteria provided	clinical testing