ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.3282A>G (p.Pro1094=)

gnomAD frequency: 0.00001  dbSNP: rs112604068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431708 SCV001634467 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001431708 SCV004129693 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CACNA2D4: BP4, BP7

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