Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587608 | SCV000698698 | benign | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | Variant summary: The RRAS c.573-12G>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 96/111944 control chromosomes from ExAC at a frequency of 0.0008576, which is approximately 343 times the estimated maximal expected allele frequency of a pathogenic RRAS variant (0.0000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as Benign. |
Gene |
RCV000587608 | SCV002004390 | likely benign | not provided | 2020-11-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002061986 | SCV002418804 | likely benign | Noonan syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing |