ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1568+12A>G

gnomAD frequency: 0.00128  dbSNP: rs181790623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126488 SCV000169995 benign not specified 2014-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514782 SCV000609659 benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV002055653 SCV002462745 benign Benign neonatal seizures 2024-01-29 criteria provided, single submitter clinical testing

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