ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) (rs187473846)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226352 SCV000290267 likely benign Adams-Oliver syndrome 5 2020-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242679 SCV000319510 benign Cardiovascular phenotype 2017-11-20 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV001572783 SCV000532277 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28991257)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121694 SCV000862405 benign not specified 2018-07-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170713 SCV001333314 benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-30 criteria provided, single submitter clinical testing
ITMI RCV000121694 SCV000085892 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572783 SCV001797681 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001572783 SCV001807343 likely benign not provided no assertion criteria provided clinical testing

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