ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)

gnomAD frequency: 0.00030  dbSNP: rs374347802
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712123 SCV000526423 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712123 SCV000842544 benign not provided 2018-03-19 criteria provided, single submitter clinical testing
Invitae RCV001087415 SCV001002294 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270328 SCV002555448 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270329 SCV002555449 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418293 SCV002724725 likely benign Inborn genetic diseases 2017-10-12 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712123 SCV001926709 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000712123 SCV001967862 likely benign not provided no assertion criteria provided clinical testing

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