ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.931A>G (p.Thr311Ala)

gnomAD frequency: 0.00003  dbSNP: rs202145498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170709 SCV001333310 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-30 criteria provided, single submitter clinical testing

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