Submissions for variant NM_021072.4(HCN1):c.1619-3T>C

gnomAD frequency: 0.00062  dbSNP: rs376434225

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592953	SCV000709155	uncertain significance	not provided	2017-06-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089088	SCV000757964	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317344	SCV000850499	likely benign	Inborn genetic diseases	2017-02-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV000592953	SCV001913554	benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927942	SCV004745011	likely benign	HCN1-related disorder	2024-02-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).