ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=)

gnomAD frequency: 0.00004  dbSNP: rs748200129
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002270054 SCV000290293 likely benign Adams-Oliver syndrome 5 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000839775 SCV000981682 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270054 SCV002554269 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270053 SCV002554270 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347909 SCV002650616 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000839775 SCV004564466 likely benign not provided 2023-03-06 criteria provided, single submitter clinical testing

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