ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) (rs376560330)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039138 SCV000062820 likely benign not specified 2011-03-08 criteria provided, single submitter clinical testing p.Arg964Gln in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (24/8460) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs376560330).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724091 SCV000228263 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000724091 SCV001031598 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106485 SCV001263558 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.
Illumina Clinical Services Laboratory,Illumina RCV001106486 SCV001263559 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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