ClinVar Miner

Submissions for variant NM_002249.6(KCNN3):c.1092G>C (p.Leu364=)

dbSNP: rs1051614
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Total submissions: 3
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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 RCV000455667 SCV000539451 benign 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: Frequency
Genome-Nilou Lab RCV001730688 SCV001980903 benign Zimmermann-laband syndrome 3 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714008 SCV005279995 benign not provided criteria provided, single submitter not provided

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