ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) (rs143506822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527149 SCV000636911 likely benign Hajdu-Cheney syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592565 SCV000704461 likely benign not specified 2018-07-30 criteria provided, single submitter clinical testing

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