ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.*4316del

gnomAD frequency: 0.01792  dbSNP: rs61438560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301736 SCV000471754 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358850 SCV000471755 likely benign Benign neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing

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