ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.454-10C>G (rs731861)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 2020-11-27 criteria provided, single submitter clinical testing

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