ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.894G>A (p.Gln298=) (rs370514077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621255 SCV000738483 likely benign Cardiovascular phenotype 2016-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000328152 SCV000436214 uncertain significance Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227545 SCV000283390 likely benign Homocystinuria due to CBS deficiency 2015-12-20 criteria provided, single submitter clinical testing

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