ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)

gnomAD frequency: 0.00004  dbSNP: rs780875110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416014 SCV000493497 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000416014 SCV000982914 likely benign not provided 2018-03-29 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 RCV001203573 SCV001374746 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-10-22 criteria provided, single submitter clinical testing
New York Genome Center RCV001782897 SCV002025611 uncertain significance Developmental and epileptic encephalopathy, 14 2020-06-11 criteria provided, single submitter clinical testing

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