ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) (rs188966938)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218523 SCV000268856 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Ala3005Gly in exon 62 of CDH23: This variant is not expected to have clinical significance because it has been identified in 1% (162/16502) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs188966938)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218523 SCV000701662 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000218523 SCV000714452 likely benign not specified 2017-11-09 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.
Invitae RCV000911026 SCV001056079 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106133 SCV001263167 benign Usher syndrome type 1D 2017-10-16 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001106134 SCV001263168 likely benign Deafness, autosomal recessive 12 2017-10-16 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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