ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1096G>C (p.Asp366His) (rs1800956)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150650 SCV000197991 benign not specified 2014-09-04 criteria provided, single submitter clinical testing Asp366His in exon 8 of ENG: This variant is not expected to have clinical signif icance because it has been identified in 10.5% (60/572) of Asian chromosomes by the 1000 Genomes Project (dbSNP rs1800956).
GeneDx RCV000150650 SCV000250072 benign not specified 2015-07-07 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.
PreventionGenetics,PreventionGenetics RCV000150650 SCV000302331 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309805 SCV000477330 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857857 SCV000557846 benign Hereditary hemorrhagic telangiectasia 2020-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000309805 SCV001156666 benign Hereditary hemorrhagic telangiectasia type 1 2020-07-16 criteria provided, single submitter clinical testing

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