ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4515G>A (p.Ala1505=) (rs193197554)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038047 SCV000061713 likely benign not specified 2013-01-30 criteria provided, single submitter clinical testing Ala1505Ala in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/8600 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/), and in 1/176 Yoruba chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs193197554). Ala1505Ala in exon 23 of DSP (rs193197554; allele frequency = 1/8600) **
PreventionGenetics,PreventionGenetics RCV000038047 SCV000310360 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000641829 SCV000763479 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000777970 SCV000914073 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171853 SCV001334728 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing

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