ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.*10C>A (rs9978104)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000175120 SCV000167571 benign not specified 2013-01-17 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175120 SCV000226552 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000175120 SCV000268831 benign not specified 2013-04-04 criteria provided, single submitter clinical testing *10C>A in exon 17B of CBS: This variant is not expected to have clinical signifi cance because it has been identified in 29.2% (1287/4406) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs9978104).
Illumina Clinical Services Laboratory,Illumina RCV000343292 SCV000436203 benign Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing

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