ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)

gnomAD frequency: 0.00001  dbSNP: rs775105774
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660166 SCV000782160 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000842219 SCV000984219 likely benign not provided 2018-04-18 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.
Genome-Nilou Lab RCV002270957 SCV002554380 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270956 SCV002554381 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002270957 SCV003446629 likely benign Adams-Oliver syndrome 5 2022-02-04 criteria provided, single submitter clinical testing

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