ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=)

gnomAD frequency: 0.00001  dbSNP: rs530064649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552306 SCV000659426 likely benign Adams-Oliver syndrome 5 2022-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822111 SCV005456613 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-10-29 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 RCV005231079 SCV005878610 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing

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