ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)

gnomAD frequency: 0.00001  dbSNP: rs377302245
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170920 SCV001333568 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067841 SCV002386798 likely benign Adams-Oliver syndrome 5 2023-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002067841 SCV002553857 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271187 SCV002553859 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725215 SCV001960117 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725215 SCV001970327 likely benign not provided no assertion criteria provided clinical testing

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