ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)

gnomAD frequency: 0.00001  dbSNP: rs886044741
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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 RCV000408520 SCV000281887 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 RCV004816411 SCV005073417 likely pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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