ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)

gnomAD frequency: 0.00002  dbSNP: rs1174406807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986404 SCV001135401 uncertain significance Hajdu-Cheney syndrome 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001312091 SCV001502537 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003313982 SCV004013920 likely pathogenic Alagille syndrome due to a NOTCH2 point mutation 2023-05-17 criteria provided, single submitter clinical testing PVS1, PM2

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