ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)

dbSNP: rs797045465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192729 SCV000247020 pathogenic CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000192729 SCV001870315 pathogenic CHARGE association 2019-07-18 criteria provided, single submitter research ACMG codes:PVS1, PS2, PM2, PP5

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