Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586770 | SCV000698692 | benign | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | Variant summary: The RRAS c.344+13G>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 85317/121284 control chromosomes from ExAC (including 30396 homozygotes) at a frequency of 0.7034481, thus allele A is the major allele a this position. Therefore, this variant is classified as Benign. |
Labcorp Genetics |
RCV002061984 | SCV002426652 | benign | Noonan syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000586770 | SCV005307012 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV001700163 | SCV001921361 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001700163 | SCV001951965 | benign | not specified | no assertion criteria provided | clinical testing |