ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)

gnomAD frequency: 0.00001  dbSNP: rs768642611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002271110 SCV001048334 likely benign Adams-Oliver syndrome 5 2023-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000903848 SCV001779164 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271110 SCV002555158 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271109 SCV002555159 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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