ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)

gnomAD frequency: 0.00001  dbSNP: rs527323201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000908079 SCV000534538 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Invitae RCV001405528 SCV001607456 likely benign Adams-Oliver syndrome 5 2022-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001405528 SCV002555014 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270467 SCV002555015 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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