ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.817-8A>G (rs753576292)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633155 SCV000754369 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Invitae RCV001493879 SCV001698521 likely benign Hereditary hemorrhagic telangiectasia 2018-09-05 criteria provided, single submitter clinical testing

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