ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1555-10CT[2] (rs1280974868)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000464 SCV001157312 uncertain significance not specified 2018-07-09 criteria provided, single submitter clinical testing The ABCA4 c.1555-6_1555-5delCT variant has not been reported in the medical literature, gene-specific databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database, but is listed in the Genome Aggregation Database with an allele frequency of 0.0004073 percent (1/245526 alleles). The nucleotides at this position are well conserved across species and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict a small change in splicing. Considering available information, the clinical significance cannot be determined with certainty.

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