ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) (rs121908173)

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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 RCV000619910 SCV000739644 uncertain significance Cardiovascular phenotype 2016-04-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000004852 SCV000895251 uncertain significance Arterial tortuosity syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000004852 SCV000025028 pathogenic Arterial tortuosity syndrome 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000004852 SCV000195646 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000616750 SCV000731235 likely pathogenic Thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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