Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224758 | SCV000281492 | likely benign | not provided | 2016-02-17 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
ARUP Laboratories, |
RCV000224758 | SCV000604324 | likely benign | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086945 | SCV000645644 | benign | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000083872 | SCV001271974 | likely benign | Hyperimmunoglobulin D with periodic fever | 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, |
RCV001114134 | SCV001271975 | likely benign | Mevalonic aciduria | 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. |
Broad Institute Rare Disease Group, |
RCV001258306 | SCV001435255 | benign | Nemaline myopathy 5 | criteria provided, single submitter | research | The heterozygous c.769-7T>G variant in MVK has been identified in at least 2 individuals including 1 individual with unknown phenotype and other variants in cis, and 1 individual with mevalonate kinase deficiency (Touitou & Domingo-Rittore, personal communication to Infevers database, 2004; PMID: 22246419), and has been identified in >2% of South Asian chromosomes and 8 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive mevalonic kinase deficiency. | |
Gene |
RCV000224758 | SCV001916898 | benign | not provided | 2019-01-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533, 22246419, 25525159, 27884173, 24411001, 23006543, 28137891) |
Ce |
RCV000224758 | SCV002497628 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | MVK: BP4, BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV002262663 | SCV002543523 | benign | Autoinflammatory syndrome | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083872 | SCV000115977 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided | ||
Clinical Genetics, |
RCV001699120 | SCV001923261 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001699120 | SCV001929568 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001699120 | SCV001958369 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699120 | SCV001969102 | benign | not specified | no assertion criteria provided | clinical testing |