Submissions for variant NM_001365536.1(SCN9A):c.4774+16T>A

gnomAD frequency: 0.89276  dbSNP: rs10180721

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242590	SCV000309323	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001709540	SCV001937268	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807159	SCV002054599	benign	Primary erythromelalgia	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807160	SCV002054600	benign	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807161	SCV002054601	benign	Paroxysmal extreme pain disorder	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058130	SCV002407348	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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000242590	SCV005087273	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 95% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 88. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001709540	SCV005241932	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242590	SCV001962848	benign	not specified		no assertion criteria provided	clinical testing