ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) (rs150378053)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152896 SCV000202320 likely benign not specified 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001701689 SCV000522800 benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152896 SCV000612547 benign not specified 2021-04-16 criteria provided, single submitter clinical testing
Invitae RCV000653362 SCV000775241 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717227 SCV000848076 likely benign History of neurodevelopmental disorder 2016-06-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701689 SCV001933029 likely benign not provided no assertion criteria provided clinical testing

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