ClinVar Miner

Variants studied for Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly

Coded as:
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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
20 8 155 147 36 365

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR35 20 8 151 145 34 357
LOC129933186, WDR35 0 0 4 2 1 7
MATN3, WDR35 0 0 0 0 1 1

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 20 8 155 146 36 365
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 4

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