ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)

gnomAD frequency: 0.00001  dbSNP: rs587733506
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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) RCV000734632 SCV000862788 likely benign not specified 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067170 SCV002328370 benign Hajdu-Cheney syndrome 2023-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493362 SCV002794682 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975291 SCV004787072 likely benign NOTCH2-related disorder 2024-01-04 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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