ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)

gnomAD frequency: 0.00005  dbSNP: rs368396893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066947 SCV001231971 benign Adams-Oliver syndrome 5 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001847146 SCV002104423 uncertain significance not provided 2023-08-21 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 does not alter protein structure/function
Genome-Nilou Lab RCV001066947 SCV002553362 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271181 SCV002553363 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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