ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8469T>G (p.His2823Gln)

gnomAD frequency: 0.00039  dbSNP: rs188452841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219509 SCV001391452 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334324 SCV001527136 uncertain significance Febrile seizures, familial, 4 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001219509 SCV001753784 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing

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