ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The 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
ITMI RCV000121725 SCV000085923 not provided not specified 2013-09-19 no assertion provided reference population

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