ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) (rs768278935)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408467 SCV000281869 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761669 SCV000891842 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002832 SCV001160850 likely pathogenic Cone-rod degeneration 2019-06-23 no assertion criteria provided research

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