ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.-6A>G

gnomAD frequency: 0.00002  dbSNP: rs780717504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732513 SCV001982685 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing Variant located in the Kozak sequence just upstream of the ATG translational start site, which plays a major role in the initiation of translation; however, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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