ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) (rs200462746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000269673 SCV000344375 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619774 SCV000739375 likely benign Cardiovascular phenotype 2016-01-19 criteria provided, single submitter clinical testing
Invitae RCV001078834 SCV001095406 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing

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