ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)

dbSNP: rs886044745
Minimum review status: Collection method:
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ClinVar version:
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 RCV000408489 SCV000281901 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816414 SCV005073399 pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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