ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)

gnomAD frequency: 0.00034  dbSNP: rs142462128
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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) RCV000728271 SCV000855824 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV001234445 SCV001407092 likely benign Hajdu-Cheney syndrome 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980361 SCV004787709 likely benign NOTCH2-related condition 2022-10-18 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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