ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4155C>G (p.Thr1385=)

gnomAD frequency: 0.00045  dbSNP: rs201226731
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762892 SCV001988859 benign not provided 2021-07-07 criteria provided, single submitter clinical testing
Invitae RCV001762892 SCV003795903 benign not provided 2023-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001762892 SCV004184694 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7

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