ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.-1C>A

gnomAD frequency: 0.00039  dbSNP: rs149383208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721347 SCV000530620 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313109 SCV000849198 benign Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Genome-Nilou Lab RCV002270400 SCV002554855 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270401 SCV002554856 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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