ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.81T>C (p.His27=) (rs12628)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000149841 SCV000616397 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.81T>C (p.His27=) variant in the HRAS gene is 36.7% for African chromosomes by the Exome Aggregation Consortium (3874/10274 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). Additional case-level data provided by: SCV000058315; SCV000062146; SCV000196686.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038468 SCV000058315 benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038468 SCV000062146 benign not specified 2007-07-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038468 SCV000311016 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000509400 SCV000603967 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659682 SCV000781528 uncertain significance Costello syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000509400 SCV001000089 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000149841 SCV000196686 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
GenomeConnect, ClinGen RCV000509400 SCV000607341 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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