Submissions for variant NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)

gnomAD frequency: 0.00006  dbSNP: rs1003586835

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000701339	SCV000830136	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001538972	SCV001756694	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center	RCV001839019	SCV002098988	uncertain significance	Developmental and epileptic encephalopathy, 14	2021-03-26	criteria provided, single submitter	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV000701339	SCV004228975	not provided	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 03-06-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.