ClinVar Miner

Variants in gene combination COL3A1, MIR3606

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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
2 0 1 5 0 8

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign total
Ehlers-Danlos syndrome, type 4 2 0 4 6
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 1
not provided 0 1 0 1
not specified 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign total
Invitae 0 0 4 4
OMIM 1 0 0 1
Collagen Diagnostic Laboratory, University of Washington 1 0 0 1
GeneDx 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Color Diagnostics, LLC DBA Color Health 0 0 1 1

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