ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.699C>T (p.Tyr233=) (rs234706)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078110 SCV000109948 benign not specified 2014-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000078110 SCV000167563 benign not specified 2013-08-13 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 RCV000078110 SCV000268836 benign not specified 2014-12-02 criteria provided, single submitter clinical testing p.Tyr233Tyr in exon 8 of CBS: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 34% (2960/8600) of E uropean American chromosomes and 23% (1021/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs234706).
PreventionGenetics,PreventionGenetics RCV000078110 SCV000301905 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247442 SCV000317682 benign Cardiovascular phenotype 2014-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377779 SCV000436221 benign Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757058 SCV000885144 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600783 SCV000734090 benign Homocystinuria due to CBS deficiency no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000600783 SCV000745585 benign Homocystinuria due to CBS deficiency 2016-12-05 no assertion criteria provided clinical testing

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