ClinVar Miner

Variants studied for Neurodegeneration with brain iron accumulation

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Minimum submission review status: Collection method:
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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
21 23 0 0 0 2 46

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic not provided total
PLA2G6 8 9 1 18
C19orf12 5 1 0 6
COASY 2 4 0 6
ATP13A2 2 3 0 5
CP 0 2 0 2
DCAF17 1 1 0 2
FA2H 1 1 0 2
CP, HPS3 0 1 0 1
CRAT 1 0 0 1
FA2H, LOC130059394 0 1 0 1
REPS1 1 0 0 1
WDR45 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 22 0 41
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 2 0 0 2
GeneReviews 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1
GenomeConnect, ClinGen 0 0 1 1

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