ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)

gnomAD frequency: 0.00004  dbSNP: rs768669808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107331 SCV002394614 benign Hajdu-Cheney syndrome 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494218 SCV002797180 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893293 SCV004717781 likely benign NOTCH2-related disorder 2022-02-10 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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