ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=)

gnomAD frequency: 0.00002  dbSNP: rs61756001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479662 SCV001683967 likely benign Hajdu-Cheney syndrome 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936215 SCV004753251 likely benign NOTCH2-related condition 2019-05-28 criteria provided, single submitter 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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