ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.570+1798A>G

gnomAD frequency: 0.00005  dbSNP: rs888731641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074719 SCV001240312 uncertain significance Retinal dystrophy 2019-04-17 criteria provided, single submitter clinical testing
GeneDx RCV002225795 SCV002504260 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect (activation of a cryptic splice donor site resulting in inclusion of an out-of-frame pseudo exon) (Khan et al., 2020); This variant is associated with the following publications: (PMID: 32307445, 25082829, 35348597)

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