ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387570 SCV004099034 likely pathogenic Aortic valve disease 1 2023-07-05 criteria provided, single submitter clinical testing PVS1, PM2

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