ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) (rs140463385)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039316 SCV000063000 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Asp3253Ala in Exon 70 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (25/3392) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs140463385).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039316 SCV000114036 benign not specified 2013-10-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039316 SCV000314006 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270308 SCV000483103 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325564 SCV000483104 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380222 SCV000483105 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285800 SCV000483106 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000889474 SCV001033157 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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