ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5836-3C>A (rs1064793013)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483369 SCV000564538 likely pathogenic not provided 2013-07-31 criteria provided, single submitter clinical testing The c.5836-3 C>A variant in the ABCA4 gene has not been reported as a pathogenic mutation or as a benign polymorphism to our knowledge. Three in silico splice prediction algorithms predict c.5836-3 C>A destroys or damages the natural splice acceptor site of intron 41. The c.5836-3 C>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, the c.5836-3C>A variant is a candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be completely excluded.
Rui Chen Lab,Baylor College of Medicine RCV000515665 SCV000579423 pathogenic Retinitis pigmentosa 2017-05-09 no assertion criteria provided research

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