ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) (rs377294245)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619364 SCV000739389 uncertain significance Cardiovascular phenotype 2016-08-25 criteria provided, single submitter clinical testing Insufficient evidence
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626939 SCV000747642 uncertain significance Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198164 SCV001369019 uncertain significance Narrow palate; Hyperextensible skin; Poor wound healing; Joint hypermobility; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.

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