Submissions for variant NM_001365536.1(SCN9A):c.4399-10_4399-7del

dbSNP: rs77944059

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153913	SCV000203528	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153913	SCV000309319	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405665	SCV000418354	benign	Congenital Indifference to Pain	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359605	SCV000418356	benign	Small fiber neuropathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264835	SCV000418357	benign	Inherited Erythromelalgia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360774	SCV000418359	benign	Paroxysmal extreme pain disorder	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713172	SCV000843752	benign	not provided	2018-05-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513086	SCV001720622	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713172	SCV001827479	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 17470132, 23129781)
Genome-Nilou Lab	RCV001807103	SCV002054602	benign	Primary erythromelalgia	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807104	SCV002054603	benign	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000360774	SCV002054604	benign	Paroxysmal extreme pain disorder	2021-07-15	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000153913	SCV005087318	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 89% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 83. Only high quality variants are reported.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000153913	SCV001930275	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153913	SCV001955998	benign	not specified		no assertion criteria provided	clinical testing