ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) (rs61753019)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085694 SCV000202088 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000085694 SCV000511905 pathogenic not provided 2015-04-01 criteria provided, single submitter clinical testing The V1686M variant in the ABCA4 gene has been reported in association with Stargardt disease (Jaakson et al., 2003; Zernant et al., 2014). The V1686M variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Retina International RCV000085694 SCV000117834 not provided not provided no assertion provided not provided

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