ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.198A>G (p.Ala66=) (rs200229810)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038260 SCV000061929 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing p.Ala66Ala in exon 3 of KRAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 12/66636 of Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200229810).
Illumina Clinical Services Laboratory,Illumina RCV000306687 SCV000377753 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038260 SCV000699770 benign not specified 2019-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000590059 SCV000885639 benign none provided 2019-09-23 criteria provided, single submitter clinical testing
Invitae RCV001089083 SCV001005522 likely benign Rasopathy 2019-12-31 criteria provided, single submitter clinical testing

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