ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1077G>A (p.Val359=)

gnomAD frequency: 0.00004  dbSNP: rs750375617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187967 SCV000241570 likely benign not provided 2019-04-26 criteria provided, single submitter clinical testing 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078569 SCV000649474 likely benign Benign neonatal seizures 2024-11-21 criteria provided, single submitter clinical testing

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