ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1799+17T>C

gnomAD frequency: 0.00001  dbSNP: rs772154355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611681 SCV000722582 likely benign not specified 2017-09-01 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.
Invitae RCV002065265 SCV002405526 likely benign Benign neonatal seizures 2022-12-06 criteria provided, single submitter clinical testing

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