ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser)

gnomAD frequency: 0.00003  dbSNP: rs769696527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361408 SCV001557384 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV002509671 SCV002819000 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a NOTCH1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 33829027)

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