ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=)

gnomAD frequency: 0.64657  dbSNP: rs2250736
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222719 SCV000268814 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Asp368Asp in exon 7 of CACNA1D: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 46.7% (4012/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2250736).
GeneDx RCV000222719 SCV000716939 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554661 SCV001775933 benign Aldosterone-producing adenoma with seizures and neurological abnormalities 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000615002 SCV001775934 benign Sinoatrial node dysfunction and deafness 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002057064 SCV002338906 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001554661 SCV004016948 benign Aldosterone-producing adenoma with seizures and neurological abnormalities 2023-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615002 SCV000734287 benign Sinoatrial node dysfunction and deafness no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000222719 SCV001923169 benign not specified no assertion criteria provided clinical testing

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