ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) (rs182505786)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000547865 SCV000519786 benign not provided 2019-01-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23397224)
Invitae RCV001084096 SCV000656715 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000444556 SCV000708441 benign not specified 2017-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716621 SCV000847463 likely benign History of neurodevelopmental disorder 2016-07-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000547865 SCV001143311 benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000547865 SCV001926325 likely benign not provided no assertion criteria provided clinical testing

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