ClinVar Miner

Submissions for variant NC_000010.11:g.71645832del

dbSNP: rs1589292855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000491 SCV001157380 likely pathogenic not specified 2018-12-05 criteria provided, single submitter clinical testing The p.Gly381fs variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. The c.1142delG variant creates a frameshift in the CDH23 protein at codon 381 in exon13/70 which results in a premature termination codon and is predicted to result in a truncated or absent protein product. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). Altogether this variant is likely to be pathogenic
Revvity Omics, Revvity RCV001809886 SCV002016986 pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing

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