ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5781+10A>C

dbSNP: rs369586235
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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) RCV000259633 SCV000343416 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV003522955 SCV004269326 likely benign Hajdu-Cheney syndrome 2023-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967785 SCV004781072 likely benign NOTCH2-related condition 2021-12-28 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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