ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys)

gnomAD frequency: 0.00011  dbSNP: rs201742794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146067 SCV000193226 uncertain significance Febrile seizures, familial, 4 2013-10-24 criteria provided, single submitter clinical testing
Invitae RCV001213321 SCV001384947 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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