ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)

gnomAD frequency: 0.00258  dbSNP: rs147223770
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121717 SCV000332209 benign not specified 2015-06-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514929 SCV000609782 likely benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV001084397 SCV000760148 benign Hajdu-Cheney syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000514929 SCV001852029 benign not provided 2021-01-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26485759, 24366360, 32467344, 29642553, 29868112, 25587027, 22662265, 30653986, 26094658, 26553438, 24728327)
ITMI RCV000121717 SCV000085915 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514929 SCV001799811 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514929 SCV001929821 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514929 SCV001972458 likely benign not provided no assertion criteria provided clinical testing

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