ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) (rs202010361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622009 SCV000739737 uncertain significance Cardiovascular phenotype 2016-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770354 SCV000901794 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-07-25 criteria provided, single submitter clinical testing

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