ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) (rs150828989)

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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 RCV000253434 SCV000317729 likely benign Cardiovascular phenotype 2018-03-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Structural Evidence
GeneDx RCV000200383 SCV000249716 likely benign not specified 2018-02-14 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 Diagnostics Laboratory,University Medical Center Utrecht RCV000227198 SCV000743127 likely benign Homocystinuria due to CBS deficiency 2015-12-18 criteria provided, single submitter clinical testing
Invitae RCV000227198 SCV000283384 benign Homocystinuria due to CBS deficiency 2017-12-11 criteria provided, single submitter clinical testing

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