ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)

gnomAD frequency: 0.00003  dbSNP: rs745901158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208387 SCV000264133 uncertain significance Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 2015-02-27 criteria provided, single submitter clinical testing
Invitae RCV002517402 SCV003488793 benign Adams-Oliver syndrome 5 2022-09-06 criteria provided, single submitter clinical testing

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