ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.573-12G>A

gnomAD frequency: 0.00086  dbSNP: rs201690554
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Total submissions: 3
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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 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.
GeneDx RCV000587608 SCV002004390 likely benign not provided 2020-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061986 SCV002418804 likely benign Noonan syndrome 2024-01-16 criteria provided, single submitter clinical testing

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