ClinVar Miner

Variants in gene combination CDH23, LOC111982869

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 3 5 2 1 11

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Usher syndrome, type 1D 2 1 0 0 0 3
not provided 1 0 2 0 0 3
not specified 0 0 1 2 1 3
CDH23-Related Disorders 0 0 2 0 0 2
Deafness, autosomal recessive 12 1 1 0 0 0 2
Nonsyndromic Hearing Loss, Recessive 0 0 2 0 0 2
Retinitis pigmentosa-deafness syndrome 0 0 2 0 0 2
Retinal dystrophy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 1 1 1 6
GeneDx 1 0 1 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1

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