ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) (rs572036869)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517172 SCV000612543 benign not specified 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001088191 SCV000656763 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718873 SCV000849737 likely benign History of neurodevelopmental disorder 2016-11-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000539804 SCV001151708 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing

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