ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=)

gnomAD frequency: 0.00005  dbSNP: rs759776061
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192767 SCV000247670 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing
Invitae RCV000874103 SCV001016232 likely benign Benign neonatal seizures 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001610511 SCV001833935 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001610511 SCV002063210 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KCNQ3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003907690 SCV004723412 likely benign KCNQ3-related disorder 2019-06-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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