ClinVar Miner

Variants studied for Congenital dyserythropoietic anemia, type II; Cowden syndrome 7

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
52 17 58 327 35 487

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
SEC23B 40 16 52 286 28 420
LOC126862987, SEC23B 12 1 5 41 7 66
POLR3F, RBBP9, SEC23B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 52 17 58 325 35 487
Fulgent Genetics, Fulgent Genetics 3 0 0 2 0 5

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