ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5196+1056A>G

dbSNP: rs886044749
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408562 SCV000281919 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074079 SCV001239648 pathogenic Retinal dystrophy 2018-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091511 SCV001247608 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408562 SCV001548119 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001091511 SCV002213757 pathogenic not provided 2021-11-23 criteria provided, single submitter clinical testing This sequence change falls in intron 36 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Stargardt disease (PMID: 23918662, 28118664, 29848554). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247669 SCV002516199 likely pathogenic Age related macular degeneration 2 2022-05-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001091511 SCV001919381 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001091511 SCV001964888 pathogenic not provided no assertion criteria provided clinical testing

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