ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)

gnomAD frequency: 0.00017  dbSNP: rs146014987
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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) RCV000725834 SCV000339761 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764962 SCV000896137 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-02-17 criteria provided, single submitter clinical testing
Invitae RCV002515888 SCV003248874 likely benign Hajdu-Cheney syndrome 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892113 SCV004716677 likely benign NOTCH2-related condition 2021-10-11 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).
ITMI RCV000121715 SCV000085913 not provided not specified 2013-09-19 no assertion provided reference population

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