Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000419889 | SCV000511485 | likely benign | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000419889 | SCV000640375 | likely benign | not provided | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000121083 | SCV000708524 | likely benign | not specified | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000419889 | SCV001857296 | benign | not provided | 2019-12-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23900974) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121083 | SCV004030044 | likely benign | not specified | 2023-07-12 | criteria provided, single submitter | clinical testing | Variant summary: FGFR3 c.2149G>A (p.Ala717Thr) results in a non-conservative amino acid change located in the Protein kinase domain (IPR000719) of 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 0.00024 in 249802 control chromosomes, predominantly at a frequency of 0.0031 within the African or African-American subpopulation in the gnomAD databaset, suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.2149G>A in individuals affected with Achondroplasia and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Prevention |
RCV003935156 | SCV004753015 | likely benign | FGFR3-related condition | 2019-04-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
ITMI | RCV000121083 | SCV000085251 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |