ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)

dbSNP: rs575583988
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724620 SCV000226882 uncertain significance not provided 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000724620 SCV000329180 likely benign not provided 2022-11-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000143871 SCV000562903 likely benign Long QT syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312957 SCV000849280 likely benign Cardiovascular phenotype 2018-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Mendelics RCV000988768 SCV001138625 benign Timothy syndrome 2023-08-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000988768 SCV001368995 uncertain significance Timothy syndrome 2019-08-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP6.
CeGaT Center for Human Genetics Tuebingen RCV000724620 SCV004129716 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1C: BS1, BS2
Blueprint Genetics RCV000143871 SCV000188739 uncertain significance Long QT syndrome 2013-11-28 no assertion criteria provided clinical testing

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