ClinVar Miner

Variants studied for Cowden syndrome 7

Included ClinVar conditions (2):
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
58 19 66 327 38 503

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SEC23B 45 18 58 286 31 434
LOC126862987, SEC23B 12 1 7 41 7 67
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133 1 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 57 17 59 325 35 493
Genome-Nilou Lab 0 0 0 0 6 6
Fulgent Genetics, Fulgent Genetics 3 0 0 2 0 5
Baylor Genetics 0 0 3 0 0 3
OMIM 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1

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