ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2517+6C>T

gnomAD frequency: 0.00460  dbSNP: rs145316463
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310654 SCV000418558 likely benign Channelopathy-associated congenital insensitivity to pain, 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 Laboratory Services, Illumina RCV000361097 SCV000418562 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 Laboratory Services, Illumina RCV000266516 SCV000418563 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). 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 Laboratory Services, Illumina RCV000302754 SCV000418564 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718701 SCV000514585 benign not provided 2019-05-30 criteria provided, single submitter clinical testing
Invitae RCV000470795 SCV000559272 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000418875 SCV000605069 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488704 SCV002803519 likely benign Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2022-03-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001718701 SCV001979285 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001718701 SCV001979465 likely benign not provided no assertion criteria provided clinical testing

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