Submissions for variant NM_004415.4(DSP):c.1574+14G>T

gnomAD frequency: 0.00048  dbSNP: rs200443042

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037996	SCV000061662	likely benign	not specified	2012-01-27	criteria provided, single submitter	clinical testing	1574+14G>A in intron 12 of DSP: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. This variant has also been identified in 3/7020 European American chromosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washington.e du/EVS). 1574+14G>A in intron 12 of DSP (allele frequency = 3/7020) **
GeneDx	RCV001528753	SCV000512875	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Illumina Laboratory Services, Illumina	RCV001161049	SCV001322892	uncertain significance	Arrhythmogenic right ventricular dysplasia 8	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001161050	SCV001322893	uncertain significance	Woolly hair-skin fragility syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001161051	SCV001322894	uncertain significance	Lethal acantholytic epidermolysis bullosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054684	SCV002429737	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2025-02-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528753	SCV001741042	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037996	SCV001920605	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528753	SCV001932977	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528753	SCV001966291	likely benign	not provided		no assertion criteria provided	clinical testing