ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4253+1G>T

dbSNP: rs61750139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000085617 SCV000117756 not provided not provided no assertion provided not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815110 SCV005072159 pathogenic Retinal dystrophy 2012-01-01 no assertion criteria provided clinical testing

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