ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)

gnomAD frequency: 0.00004  dbSNP: rs563486507
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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) RCV000593446 SCV000703054 uncertain significance not provided 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532406 SCV002950525 likely benign Hajdu-Cheney syndrome 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740350 SCV005348818 likely benign NOTCH2-related disorder 2024-07-08 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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