ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2340T>C (p.Arg780=)

gnomAD frequency: 0.00001  dbSNP: rs1326427779
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156690 SCV002479549 likely benign Benign neonatal seizures 2024-07-15 criteria provided, single submitter clinical testing

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