Submissions for variant NM_020822.3(KCNT1):c.254+20T>C

gnomAD frequency: 0.27844  dbSNP: rs2385007

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000325105	SCV000339447	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000325105	SCV000519456	benign	not specified	2016-01-04	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	RCV001513764	SCV001721439	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730656	SCV001980920	benign	Developmental and epileptic encephalopathy, 14	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730657	SCV001980921	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000325105	SCV005087676	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 45% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 42. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004718164	SCV005321638	benign	not provided		criteria provided, single submitter	not provided