Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179644 | SCV000231924 | benign | not specified | 2015-01-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000315339 | SCV000451296 | likely benign | Fraser syndrome 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Genetic Services Laboratory, |
RCV000179644 | SCV000594881 | likely benign | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872220 | SCV001014005 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000872220 | SCV001502463 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FRAS1: BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000179644 | SCV002555803 | benign | not specified | 2022-06-09 | criteria provided, single submitter | clinical testing | Variant summary: FRAS1 c.9806G>A (p.Arg3269Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0052 in 246530 control chromosomes (gnomAD), predominantly at a frequency of 0.0093 within the Non-Finnish European subpopulation in the gnomAD database, including 8 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 5 fold of the estimated maximal expected allele frequency for a pathogenic variant in FRAS1 causing Cryptophthalmos Syndrome (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. Five ClinVar submitters have assessed the variant since 2014: three classified the variant as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as benign. |
Fulgent Genetics, |
RCV000315339 | SCV002802550 | likely benign | Fraser syndrome 1 | 2022-04-03 | criteria provided, single submitter | clinical testing | |
Daryl Scott Lab, |
RCV000577951 | SCV000484668 | risk factor | Congenital diaphragmatic hernia | 2016-11-09 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000315339 | SCV000734360 | likely benign | Fraser syndrome 1 | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000872220 | SCV001798770 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000179644 | SCV001929395 | benign | not specified | no assertion criteria provided | clinical testing |