ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.404T>C (p.Ile135Thr) (rs373744314)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172496 SCV000054747 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000172496 SCV000645867 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620510 SCV000736203 uncertain significance Cardiovascular phenotype 2015-08-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770292 SCV000901724 uncertain significance Cardiomyopathy 2016-03-07 criteria provided, single submitter clinical testing

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