ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) (rs55717455)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039318 SCV000063002 benign not specified 2013-05-13 criteria provided, single submitter clinical testing Pro3301Pro in exon 70 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and has been identified in 0.2% (16/8498) of European America n chromosomes and 0.7% (28/4302) of African American chromosomes from a broad po pulation by the NHLBI Exome sequencing project, and in 16/2286 (0.7%) chromosome s from the 1000 Genome Project (http://evs.gs.washington.edu/EVS/; dbSNP rs55717 455).
GeneDx RCV000039318 SCV000167631 benign not specified 2013-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039318 SCV000232383 likely benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362216 SCV000483119 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267313 SCV000483120 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324862 SCV000483121 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358601 SCV000483122 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000886795 SCV001030322 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106299 SCV001263347 uncertain significance Usher syndrome type 1D 2017-04-28 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.
Illumina Clinical Services Laboratory,Illumina RCV001106300 SCV001263348 uncertain significance Deafness, autosomal recessive 12 2017-04-28 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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