ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=)

gnomAD frequency: 0.00143  dbSNP: rs74117504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292371 SCV000342575 likely benign not specified 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001509626 SCV001716449 benign Hajdu-Cheney syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001683164 SCV001899225 benign not provided 2021-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940054 SCV004753818 likely benign NOTCH2-related condition 2021-03-29 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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