ClinVar Miner

Variants studied for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome

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
29 22 243 22 1 312

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
FBN1 29 22 232 22 1 301
FBN1, LOC126862124 0 0 7 0 0 7
FBN1, LOC113939944 0 0 2 0 0 2
FBN1, LOC130057019 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 17 10 211 19 0 257
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 7 16 2 1 36
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 14 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 7 0 0 13
3billion 0 0 0 1 0 1
Suma Genomics 0 0 1 0 0 1

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