ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)

dbSNP: rs61751393
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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 RCV000408487 SCV000281829 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815080 SCV005072486 likely pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085424 SCV000117561 not provided not provided no assertion provided not provided

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