ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.573G>A (p.Thr191=) (rs73906420)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755228 SCV000602916 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254493 SCV000317357 likely benign Cardiovascular phenotype 2014-07-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179709 SCV000232000 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000179709 SCV000167561 benign not specified 2013-03-06 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.
Invitae RCV000227079 SCV000283387 benign Homocystinuria due to CBS deficiency 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179709 SCV000268835 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr191Thr in exon 7 of CBS: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.7% (64/8600) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73906420).

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