ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) (rs41313282)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000121725 SCV000297310 likely benign not specified 2015-12-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121725 SCV000332189 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514264 SCV000611004 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001083816 SCV000636902 benign Hajdu-Cheney syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514264 SCV001896219 benign not provided 2020-01-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32859249)
ITMI RCV000121725 SCV000085923 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514264 SCV001799859 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514264 SCV001932155 likely benign not provided no assertion criteria provided clinical testing

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