ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)

gnomAD frequency: 0.06793  dbSNP: rs7221086
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001841532 SCV000052761 benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences RCV000245366 SCV000305571 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249648 SCV000318518 benign Cardiovascular phenotype 2015-07-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000261798 SCV000405997 benign Andersen Tawil syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000319269 SCV000405998 benign Short QT syndrome type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000376216 SCV000405999 benign Atrial fibrillation, familial, 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000475693 SCV000554353 benign Andersen Tawil syndrome; Short QT syndrome type 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711089 SCV001939695 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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