ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) (rs184723350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727896 SCV000529157 benign not provided 2019-07-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727896 SCV000855402 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV001089018 SCV001020687 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727896 SCV001143328 benign not provided 2018-12-26 criteria provided, single submitter clinical testing

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