Submissions for variant NM_004415.4(DSP):c.*9T>A

gnomAD frequency: 0.00645  dbSNP: rs11558732

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037981	SCV000061647	benign	not specified	2012-01-20	criteria provided, single submitter	clinical testing	*9T>A variant in 3' UTR of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it has been ident ified in 1.11% (78/7020) of European American chromosomes by the NHLBI Exome Seq uencing Project in a broad population (http://evs.gs.washington.edu/EVS; rs11558 732).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202662	SCV000257963	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2015-06-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233409	SCV000288521	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393763	SCV000465278	likely benign	Lethal acantholytic epidermolysis bullosa	2018-03-26	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000307204	SCV000465279	likely benign	Woolly hair-skin fragility syndrome	2018-03-26	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001095161	SCV000465281	likely benign	Arrhythmogenic right ventricular dysplasia 8	2018-03-26	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438294	SCV000511756	likely benign	not provided	2016-09-16	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770254	SCV000901686	benign	Cardiomyopathy	2015-11-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000987655	SCV001137055	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000438294	SCV001154660	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	DSP: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000438294	SCV001473201	benign	not provided	2020-04-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000438294	SCV001944686	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21723241, 26332594)
Breakthrough Genomics, Breakthrough Genomics	RCV000438294	SCV005222765	likely benign	not provided		criteria provided, single submitter	not provided