ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)

dbSNP: rs367838230
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476688 SCV000548937 benign Adams-Oliver syndrome 5 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002253254 SCV002525432 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing Has been reported as a likely benign variant in an individual with bicuspid aortic valve in published literature (PMID: 26820064); In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26820064)
Genome-Nilou Lab RCV000476688 SCV002553379 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269929 SCV002553383 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157395 SCV000207133 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2013-12-13 no assertion criteria provided clinical testing

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