ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) (rs374307014)

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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 RCV000726034 SCV000341364 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000726034 SCV000534486 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000290103 SCV000612507 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV001086862 SCV000656711 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720493 SCV000851370 likely benign History of neurodevelopmental disorder 2016-12-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726034 SCV000892554 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing

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