ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.676-4A>G

gnomAD frequency: 0.00005  dbSNP: rs780921786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871975 SCV001013720 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027801 SCV004893019 likely benign Inborn genetic diseases 2023-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics RCV004718778 SCV005321649 benign not provided criteria provided, single submitter not provided

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