ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039318 SCV000232383 likely benign not specified 2015-01-27 criteria provided, single submitter clinical testing
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.
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
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).

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