Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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, |
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, |
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, |
RCV000302754 | SCV000418564 | likely benign | Small fiber neuropathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV000418875 | SCV000605069 | benign | not specified | 2016-06-07 | criteria provided, single submitter | clinical testing | |
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, |
RCV001718701 | SCV001979285 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001718701 | SCV001979465 | likely benign | not provided | no assertion criteria provided | clinical testing |