ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn)

gnomAD frequency: 0.00001  dbSNP: rs1313068805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241489 SCV001414512 likely benign Adams-Oliver syndrome 5 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV003313198 SCV004012531 uncertain significance not provided 2023-01-05 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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