ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)

gnomAD frequency: 0.00143  dbSNP: rs146904895
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273017 SCV000332490 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000273017 SCV000527728 benign not specified 2016-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000548689 SCV000652937 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313995 SCV000847899 likely benign Inborn genetic diseases 2016-09-28 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.
Genome-Nilou Lab RCV002270203 SCV002555534 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270204 SCV002555535 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430813 SCV004158986 benign not provided 2022-08-01 criteria provided, single submitter clinical testing KCNT1: BS1, BS2

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