ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) (rs34295241)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246524 SCV000317888 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585432 SCV000693059 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000338554 SCV000333791 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000338554 SCV000514668 benign not specified 2015-07-29 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 RCV000230589 SCV000290950 likely benign Arterial tortuosity syndrome 2017-10-04 criteria provided, single submitter clinical testing

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