ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) (rs41322046)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200751 SCV000250070 benign not specified 2016-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084372 SCV000261828 benign Hereditary hemorrhagic telangiectasia 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000200751 SCV000302343 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000200751 SCV000343678 benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205223 SCV000477345 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000205223 SCV000603444 benign Hereditary hemorrhagic telangiectasia type 1 2020-08-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000200751 SCV000712066 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: High frequency
NIHR Bioresource Rare Diseases, University of Cambridge RCV000205223 SCV001441141 likely benign Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research BS1 +BP2+BP6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000200751 SCV001743973 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000200751 SCV001807917 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000200751 SCV001925356 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706172 SCV001929714 likely benign not provided no assertion criteria provided clinical testing

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