Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179468 | SCV000231721 | benign | not specified | 2015-08-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000179468 | SCV000269749 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 481-7C>T in intron 5 of RIT1: This variant is not expected to have clinical sign ificance because it has been identified in 45.4% (2001/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs1749409). |
Prevention |
RCV000179468 | SCV000307149 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590610 | SCV000698734 | benign | not provided | 2017-07-04 | criteria provided, single submitter | clinical testing | Variant summary: The RIT1 c.430-7C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 106445/121348 control chromosomes (47428 homozygotes) at a frequency of 0.8771879, which is approximately 70175 times the estimated maximal expected allele frequency of a pathogenic RIT1 variant (0.0000125), therefore it is a very common polymorphism found in general population. Based on the allele frequency of this variant in general population, it is classified as benign. |
Labcorp Genetics |
RCV001513007 | SCV001720531 | benign | Noonan syndrome 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001513007 | SCV002033633 | benign | Noonan syndrome 8 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000590610 | SCV005282246 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000179468 | SCV001917923 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000179468 | SCV001962702 | benign | not specified | no assertion criteria provided | clinical testing |