ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9510+19_9510+25del (rs149704197)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory; Baylor College of Medicine RCV000119817 SCV000154743 unknown Usher syndrome, type 1D criteria provided, single submitter not provided Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000402429 SCV000483091 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301614 SCV000483092 benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337881 SCV000483093 benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396275 SCV000483094 benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000604131 SCV000731176 benign not specified 2017-03-16 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.

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