ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.159C>T (p.Cys53=) (rs148475405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000233208 SCV000477359 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382758 SCV000477360 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233208 SCV000283529 benign Osler hemorrhagic telangiectasia syndrome 2017-12-14 criteria provided, single submitter clinical testing

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