ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1567+8C>T

gnomAD frequency: 0.00052  dbSNP: rs372367275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593705 SCV000701931 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082679 SCV000760146 likely benign Hajdu-Cheney syndrome 2025-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000593705 SCV001977868 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000593705 SCV001980474 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935591 SCV004756373 likely benign NOTCH2-related disorder 2019-11-06 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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