ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)

dbSNP: rs886044735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408456 SCV000281860 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543589 SCV001762264 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449544 SCV000537813 pathogenic Cone-rod dystrophy 3 no assertion criteria provided clinical testing

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