ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) (rs3812602)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243050 SCV000319444 benign Cardiovascular phenotype 2017-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770635 SCV000902086 likely benign Thoracic aortic aneurysm and aortic dissection 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000612040 SCV000714164 benign not specified 2017-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205291 SCV000262274 benign Adams-Oliver syndrome 5 2017-10-27 criteria provided, single submitter clinical testing

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