ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.732C>T (p.Pro244=) (rs112262663)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000330225 SCV000477342 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389369 SCV000477343 uncertain significance Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000389369 SCV000557851 benign Osler hemorrhagic telangiectasia syndrome 2017-10-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253892 SCV000967082 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro244Pro in exon 6 of ENG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (14/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs112262663).
PreventionGenetics RCV000253892 SCV000302344 likely benign not specified criteria provided, single submitter clinical testing

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