ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.363T>C (p.Ala121=)

gnomAD frequency: 0.00004  dbSNP: rs146440188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038461 SCV000062138 likely benign not specified 2011-12-22 criteria provided, single submitter clinical testing Ala121Ala in exon 4 of HRAS: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located in th e splice consensus sequence (rs146440188; identified in 0.014% (1/7020) of chrom osomes from a clinically unspecified population of European ancestry, NHBLI exom e seq. project).
Invitae RCV000560800 SCV000635084 likely benign Costello syndrome 2023-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001659973 SCV001874555 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813352 SCV002060514 likely benign Noonan syndrome and Noonan-related syndrome 2018-10-01 criteria provided, single submitter clinical testing

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