ClinVar Miner

Submissions for variant NM_000118.3(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
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.
Illumina Clinical Services Laboratory,Illumina RCV000309805 SCV000477330 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362138 SCV000477331 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000309805 SCV000557846 benign Osler hemorrhagic telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing
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).
PreventionGenetics RCV000150650 SCV000302331 likely benign not specified criteria provided, single submitter clinical testing

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