ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.402G>A (p.Leu134=)

dbSNP: rs1253481641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810254 SCV000950447 likely benign Benign neonatal seizures 2023-03-24 criteria provided, single submitter clinical testing
GeneDx RCV001759562 SCV001987284 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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