ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5523G>A (p.Val1841=) (rs369513655)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039219 SCV000062903 likely benign not specified 2014-05-09 criteria provided, single submitter clinical testing Val1841Val in exon 43 of CDH23: This variant has been reported in heterozygosity in one case (Oshima 2008) and has been identified in 1/8548 European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs369513655). It is not expected to have clini cal significance because it does not alter an amino acid residue and is not loca ted near a splice junction.
Illumina Clinical Services Laboratory,Illumina RCV001104395 SCV001261258 uncertain significance Deafness, autosomal recessive 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001104396 SCV001261259 uncertain significance Usher syndrome type 1D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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