Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590550 | SCV000698697 | benign | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | Variant summary: The RRAS c.454-10C>G 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 18436/51730 control chromosomes (including 2409 homozygotes) from ExAC at a frequency of 0.3563889, which is approximately 142555 times the estimated maximal expected allele frequency of a pathogenic RRAS variant (0.0000025), thus this variant is a common benign polymorphism. Therefore, this variant is classified as Benign. |
Invitae | RCV001518555 | SCV001727272 | benign | Noonan syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590550 | SCV001875384 | benign | not provided | 2018-10-09 | criteria provided, single submitter | clinical testing |