ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1362C>T (p.Val454=)

gnomAD frequency: 0.00427  dbSNP: rs116227985
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000968356 SCV001115801 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000968356 SCV001981827 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968356 SCV004140834 benign not provided 2023-08-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7, BS1, BS2

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