ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1735-8del

gnomAD frequency: 0.00076  dbSNP: rs554101334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078807 SCV001000756 benign Brugada syndrome 2023-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000860642 SCV001142874 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000860642 SCV002008307 likely benign not provided 2023-05-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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