ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) (rs201117452)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490464 SCV000267202 uncertain significance Stargardt disease 1 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000490464 SCV001135361 benign Stargardt disease 1 2019-05-28 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132584 SCV000172528 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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