ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.363T>C (p.Ala121=) (rs146440188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560800 SCV000635084 likely benign Costello syndrome 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).

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