ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)

dbSNP: rs17024517
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537316 SCV000636906 likely benign Hajdu-Cheney syndrome 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121727 SCV000706925 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV001530142 SCV001836378 benign not provided 2020-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30304577, 28776642)
Fulgent Genetics, Fulgent Genetics RCV002505068 SCV002813769 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001530142 SCV004124452 benign not provided 2023-11-01 criteria provided, single submitter clinical testing NOTCH2: PP2, BP4, BS1, BS2
ITMI RCV000121727 SCV000085925 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530142 SCV001744860 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001530142 SCV001797349 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121727 SCV001932032 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530142 SCV001968225 likely benign not provided no assertion criteria provided clinical testing

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