ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)

gnomAD frequency: 0.00001  dbSNP: rs797044475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732104 SCV000860010 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477317 SCV002779531 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-03-24 criteria provided, single submitter clinical testing
ITMI RCV000121720 SCV000085918 not provided not specified 2013-09-19 no assertion provided reference population

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