ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)

gnomAD frequency: 0.00003  dbSNP: rs138943874
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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) RCV000594782 SCV000704642 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532453 SCV003518052 likely benign Hajdu-Cheney syndrome 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900321 SCV004711606 likely benign NOTCH2-related disorder 2023-12-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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