ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1937+1G>A (rs61752401)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408499 SCV000281838 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085448 SCV000490368 pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing The c.1937+1 G>A splice site variant in the ABCA4 gene has been previously reported in association with ABCA4-related disorders (Rivera et al., 2000; Eandi et al., 2014). This pathogenic variant destroys the canonical splice donor site in intron 13, and is expected to cause abnormal gene splicing.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085448 SCV001245785 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Retina International RCV000085448 SCV000117585 not provided not provided no assertion provided not provided

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