ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)

gnomAD frequency: 0.00156  dbSNP: rs191357265
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000436384 SCV000510823 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000436384 SCV000570786 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Invitae RCV001086567 SCV000659408 benign Adams-Oliver syndrome 5 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314122 SCV000739372 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001086567 SCV002555162 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270247 SCV002555163 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502458 SCV002798477 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000436384 SCV004162066 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing NOTCH1: BS1

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