ClinVar Miner

Variants in gene FREM1

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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 not provided total
12 3 130 49 34 6 213

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marles Greenberg Persaud syndrome 4 1 101 43 23 0 171
not provided 3 2 25 1 2 6 38
not specified 0 0 2 4 20 0 26
Trigonocephaly 2 2 0 2 0 0 0 4
Bifid nose with or without anorectal and renal anomalies 3 0 0 0 0 0 3
Congenital diaphragmatic hernia 0 0 1 0 0 0 1
Irido-corneo-trabecular dysgenesis; Rieger syndrome 0 0 0 1 0 0 1
Marles Greenberg Persaud syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 101 43 23 0 168
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 19 3 7 0 30
PreventionGenetics 0 0 0 0 14 0 14
OMIM 9 0 0 0 0 0 9
UniProtKB/Swiss-Prot 0 0 0 0 0 6 6
GeneDx 2 1 0 1 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 1

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