ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)

gnomAD frequency: 0.00003  dbSNP: rs763679772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680590 SCV000808015 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000690352 SCV000818034 likely benign Adams-Oliver syndrome 5 2023-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000690352 SCV002554457 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270961 SCV002554458 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432725 SCV004162029 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing NOTCH1: PP2, BP4

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