ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) (rs182650126)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000218739 SCV000203531 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000416064 SCV000279166 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19763161, 24820863, 24737233, 32707200, 22539570, 27301361, 28073787, 28235406, 23891399, 29176367, 27608006, 27916648, 28488083, 30478917, 31664448, 22826602, 21698661)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000218739 SCV000297131 likely benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284837 SCV000418595 likely benign Paroxysmal extreme pain disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000398464 SCV000418597 likely benign Indifference to pain, congenital, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000281545 SCV000418598 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094589 SCV000418599 likely benign Primary erythromelalgia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416064 SCV000493391 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV001083229 SCV000559263 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000218739 SCV000596991 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000416064 SCV000610459 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Mendelics RCV000986925 SCV001136081 uncertain significance Hereditary sensory and autonomic neuropathy type IIA 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000416064 SCV001476868 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
OMIM RCV000144932 SCV000191928 pathogenic Small fiber neuropathy 2014-09-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000416064 SCV001743995 likely benign not provided no assertion criteria provided clinical testing

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