ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe)

gnomAD frequency: 0.00002  dbSNP: rs375190395
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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 RCV001934787 SCV002127747 likely benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003442927 SCV004168888 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 to our knowledge

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