ClinVar Miner

Variants studied for Bardet-Biedl syndrome 3; Retinitis pigmentosa 55

Coded as:
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
27 8 60 97 4 196

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARL6 26 8 59 97 4 194
ARL6, EPHA6 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 27 8 59 97 4 195
New York Genome Center 0 0 1 0 0 1

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