ClinVar Miner

Submissions for variant NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)

dbSNP: rs3831942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455043 SCV000539456 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not present in ESP. LOF is NOT an established disease mechanism. Not enough evidence that the gene is associated with cardiomyopathy. Mice homozygous for a conditional gene switch displayed no overt phenotype.
Mendelics RCV000455043 SCV002517457 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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