ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)

gnomAD frequency: 0.00007  dbSNP: rs543770603
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704495 SCV000833446 benign Adams-Oliver syndrome 5 2023-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766057 SCV000897513 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000704495 SCV002553390 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270978 SCV002553391 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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