ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1510G>A (p.Val504Met) (rs116330805)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246668 SCV000302337 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000246668 SCV000331430 benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273165 SCV000477315 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858405 SCV000557849 benign Hereditary hemorrhagic telangiectasia 2020-11-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000273165 SCV000603466 benign Hereditary hemorrhagic telangiectasia type 1 2019-04-13 criteria provided, single submitter clinical testing
GeneDx RCV001610455 SCV001839978 benign not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25312062, 15024723, 22022569, 20981092, 19767588, 25637381, 22995991, 24055113)
CSER _CC_NCGL, University of Washington RCV000148485 SCV000190188 uncertain significance Haemorrhagic telangiectasia 1 2014-06-01 no assertion criteria provided research

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