ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)

gnomAD frequency: 0.00226  dbSNP: rs78086631
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463665 SCV000562239 likely benign Brugada syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001572667 SCV000730367 likely benign not provided 2022-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23874304, 30027834, 27711072, 25527503, 23414114, 20817017, 26498160, 22840528, 26707467, 30821013)
Ambry Genetics RCV000619581 SCV000735538 likely benign Cardiovascular phenotype 2021-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003925381 SCV004743417 likely benign CACNA2D1-related disorder 2019-03-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572667 SCV001797393 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000612533 SCV001920256 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572667 SCV001927753 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000612533 SCV001957641 benign not specified no assertion criteria provided clinical testing

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