Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000114242 | SCV000147800 | likely benign | not specified | 2014-02-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000200297 | SCV000253658 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000114242 | SCV000316326 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001719853 | SCV000581902 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19574260) |
Illumina Laboratory Services, |
RCV001161604 | SCV001323496 | uncertain significance | Meckel syndrome, type 3 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000114242 | SCV002104103 | likely benign | not specified | 2022-02-26 | criteria provided, single submitter | clinical testing | Variant summary: TMEM67 c.1309C>G (p.Leu437Val) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.002 in 251080 control chromosomes, predominantly at a frequency of 0.0031 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 1.75 fold of the estimated maximal expected allele frequency for a pathogenic variant in TMEM67 causing Joubert Syndrome And Related Disorders phenotype (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. Although reported in the literature, to our knowledge, no penetrant association of c.1309C>G in individuals affected with Joubert Syndrome And Related Disorders has been reported. At least one publication reports experimental evidence evaluating an impact on protein function (example, Leitch_2008). These results showed no damaging effect of this variant. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=2; VUS, n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Ce |
RCV001719853 | SCV004810820 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | TMEM67: BS2 |
Mayo Clinic Laboratories, |
RCV001719853 | SCV005409483 | uncertain significance | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | BS1 |