ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.-25_-8dup (rs752443408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520002 SCV000619826 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing This individual is also heterozygous for the c.-25_-8dup18 variant. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This regulatory duplication affects both nonconserved nucleotides and nucleotides conserved through mammals. No regulatory variants have been reported in the Human Gene Mutation Database or observed at GeneDx (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Natera, Inc. RCV001274531 SCV001458767 uncertain significance Alport syndrome 1, X-linked recessive 2020-09-16 no assertion criteria provided clinical testing

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