ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)

gnomAD frequency: 0.00087  dbSNP: rs143198263
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176684 SCV000228375 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000230655 SCV000290489 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001701697 SCV000523703 benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314622 SCV000848668 likely benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV001701697 SCV002546126 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7, BS1
Genome-Nilou Lab RCV002269949 SCV002553598 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269950 SCV002553599 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701697 SCV004564693 benign not provided 2023-09-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701697 SCV001929626 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701697 SCV001971235 likely benign not provided no assertion criteria provided clinical testing

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