ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.180G>C (p.Ala60=)

dbSNP: rs756647171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408524 SCV000281801 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816382 SCV005072176 uncertain significance Retinal dystrophy 2013-01-01 criteria provided, single submitter clinical testing

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