ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3655+54A>G

gnomAD frequency: 0.00047  dbSNP: rs587664838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710985 SCV001938652 benign not provided 2021-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913326 SCV004732419 likely benign NOTCH2-related disorder 2019-04-04 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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