ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.909C>T (p.Ala303=) (rs200306464)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000263118 SCV000477338 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316017 SCV000477339 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000263118 SCV000629583 benign Osler hemorrhagic telangiectasia syndrome 2017-04-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615372 SCV000731978 likely benign not specified 2017-09-29 criteria provided, single submitter clinical testing p.Ala303Ala in exon 7 of ENG: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been identified in 0.9% (290/ 30656) of South Asian chromosomes, including 2 homozygotes, by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200306464). AC MG/AMP Criteria applied: BS1, BP7 (Richards 2015).

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