ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1145+7C>T (rs201158177)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174216 SCV000602920 benign not specified 2015-12-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174216 SCV000225479 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000174216 SCV000167570 benign not specified 2013-03-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000276932 SCV000436210 likely benign Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206277 SCV000261852 benign Homocystinuria due to CBS deficiency 2017-12-23 criteria provided, single submitter clinical testing

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