ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)

gnomAD frequency: 0.00051  dbSNP: rs150785478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002082977 SCV002371760 likely benign Hajdu-Cheney syndrome 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498276 SCV002805089 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933357 SCV004761985 likely benign NOTCH2-related disorder 2019-10-11 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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