ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)

gnomAD frequency: 0.00029  dbSNP: rs150657714
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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) RCV000731809 SCV000859662 likely benign not specified 2018-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067126 SCV002339066 benign Hajdu-Cheney syndrome 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485902 SCV002799200 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597872 SCV005092129 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing NOTCH2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003938113 SCV004752385 benign NOTCH2-related disorder 2019-06-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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