ClinVar Miner

Variants in gene combination MPZ, SDHC

See also:
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
0 1 0 0 2 3

Condition and significance breakdown #

Total conditions: 11
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Condition likely pathogenic benign total
Charcot-Marie-Tooth disease, type I 0 2 2
Charcot-Marie-Tooth, Intermediate 0 2 2
Congenital hypomyelinating neuropathy 1, autosomal recessive 0 2 2
Pheochromocytoma 0 2 2
Roussy-Lévy syndrome 0 2 2
not specified 0 2 2
Charcot-Marie-Tooth disease, demyelinating, type 1b 1 0 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 1 1
Hereditary cancer-predisposing syndrome 0 1 1
Paragangliomas 3 0 1 1
not provided 0 1 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter likely pathogenic benign total
Illumina Clinical Services Laboratory,Illumina 0 2 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1
Ambry Genetics 0 1 1
PreventionGenetics,PreventionGenetics 0 1 1
Counsyl 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1

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