ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)

gnomAD frequency: 0.00001  dbSNP: rs773185855
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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 RCV001071658 SCV001236972 benign Adams-Oliver syndrome 5 2024-07-30 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535572 SCV001749561 not provided Adams-Oliver syndrome 5; Aortic valve disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-26-2020 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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