ClinVar Miner

Variants in gene combination LOC105378311, PCDH15

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Minimum submission review status: Collection method:
Minimum conflict level:
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
0 3 4 3 2 11

Condition and significance breakdown #

Total conditions: 5
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Condition likely pathogenic uncertain significance likely benign benign total
Usher syndrome, type 1F 3 1 0 0 4
not specified 0 1 1 2 4
not provided 0 2 1 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 1
Retinitis pigmentosa-deafness syndrome 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter likely pathogenic uncertain significance likely benign benign total
Counsyl 3 1 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 1 3
GeneDx 0 2 0 0 2
PreventionGenetics 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1

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