ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5196+1136C>A

dbSNP: rs114147805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601786 SCV000730348 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000986351 SCV001135334 likely benign Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075845 SCV001241484 uncertain significance Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing

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