ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)

gnomAD frequency: 0.00001  dbSNP: rs954507677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655264 SCV000777194 likely benign Adams-Oliver syndrome 5 2023-08-22 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535555 SCV001749532 not provided Adams-Oliver syndrome 5; Aortic valve disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-13-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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