ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)

gnomAD frequency: 0.00002  dbSNP: rs752802795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372476 SCV001569142 benign Adams-Oliver syndrome 5 2023-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001560052 SCV001782386 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV001372476 SCV002555197 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271235 SCV002555199 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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