ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) (rs371365065)

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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 RCV000245753 SCV000319339 likely benign Cardiovascular phenotype 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV000532297 SCV000659450 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000614152 SCV000715867 likely benign not specified 2018-02-26 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.
Center for Human Genetics, Inc RCV000660169 SCV000782163 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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