ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) (rs6094438)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128120 SCV000171712 benign not specified 2013-02-01 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 RCV000756645 SCV000290948 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244204 SCV000317329 benign Cardiovascular phenotype 2015-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000234189 SCV000434150 likely benign Arterial tortuosity syndrome 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000234189 SCV000744120 benign Arterial tortuosity syndrome 2017-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756645 SCV000884523 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770702 SCV000902179 benign Thoracic aortic aneurysm and aortic dissection 2017-03-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000234189 SCV000745576 benign Arterial tortuosity syndrome 2016-09-29 no assertion criteria provided clinical testing

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