ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)

dbSNP: rs149036937
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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) RCV000591481 SCV000704813 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532465 SCV003479590 likely benign Hajdu-Cheney syndrome 2022-06-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980086 SCV004788743 likely benign NOTCH2-related disorder 2019-03-26 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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