ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) (rs111606207)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250335 SCV000319732 likely benign Cardiovascular phenotype 2015-05-18 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176619 SCV000335710 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Invitae RCV001082496 SCV000562877 benign Long QT syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717524 SCV000848377 likely benign History of neurodevelopmental disorder 2015-05-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001358770 SCV001554642 benign not specified 2021-03-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000176619 SCV001747639 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000176619 SCV001883300 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001358770 SCV001921088 benign not specified no assertion criteria provided clinical testing

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