ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)

dbSNP: rs61753021
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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 RCV000408542 SCV000281913 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085699 SCV000117839 not provided not provided no assertion provided not provided

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