ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.531+11G>A (rs186114513)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124146 SCV000167560 benign not specified 2013-01-09 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124146 SCV000268834 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 531+11G>A in intron 6 of CBS: This variant is not expected to have clinical sign ificance because it is not located within the conserved splice consensus sequenc e. It has been identified in 0.7% (62/8578) of European American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS; dbSNP rs186114513).
Illumina Clinical Services Laboratory,Illumina RCV000350914 SCV000436226 uncertain significance Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625490 SCV000745586 likely benign Homocystinuria due to CBS deficiency 2017-01-23 no assertion criteria provided clinical testing

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