ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6434C>T (p.Pro2145Leu) (rs750077868)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517121 SCV000612566 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718815 SCV000849679 uncertain significance History of neurodevelopmental disorder 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764177 SCV000895179 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Epileptic encephalopathy, early infantile, 42 2018-10-31 criteria provided, single submitter clinical testing

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