ClinVar Miner

Variants in gene COL4A3

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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
4 2 9 6 4 24

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 2 4 4 10
Alport syndrome, autosomal recessive 3 2 1 0 0 6
Alport syndrome 0 0 5 0 0 5
not provided 1 0 0 2 0 3
Alport syndrome 3, autosomal dominant 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 3 4 9
Illumina Clinical Services Laboratory,Illumina 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
GeneDx 0 0 0 3 1 4
Counsyl 0 2 1 0 0 3
PreventionGenetics 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Invitae 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 1

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