ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) (rs79849424)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128124 SCV000171716 benign not specified 2013-04-15 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 RCV000230382 SCV000290944 benign Arterial tortuosity syndrome 2017-07-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000128124 SCV000314727 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246894 SCV000317384 benign Cardiovascular phenotype 2015-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230382 SCV000434164 likely benign Arterial tortuosity syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000230382 SCV000743111 benign Arterial tortuosity syndrome 2016-03-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000230382 SCV000745580 benign Arterial tortuosity syndrome 2014-02-04 no assertion criteria provided clinical testing

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