ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.344+13G>A

gnomAD frequency: 0.71978  dbSNP: rs1368464
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Total submissions: 5
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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 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 (formerly Invitae), Labcorp RCV002061984 SCV002426652 benign Noonan syndrome 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000586770 SCV005307012 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700163 SCV001921361 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700163 SCV001951965 benign not specified no assertion criteria provided clinical testing

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