ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2475C>T (p.Tyr825=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917999 SCV003251574 benign Hajdu-Cheney syndrome 2025-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898582 SCV004713519 likely benign NOTCH2-related disorder 2022-01-17 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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