ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2837-7A>G

gnomAD frequency: 0.00187  dbSNP: rs112176710
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078617 SCV000562244 benign Brugada syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000457754 SCV000716452 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000457754 SCV001142876 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000602536 SCV001919215 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000457754 SCV001929182 likely benign not provided no assertion criteria provided clinical testing

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