ClinVar Miner

Variants in gene CCDC50

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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
2 1 130 82 52 253

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 91 68 50 202
not specified 0 0 50 15 20 82
Autosomal dominant nonsyndromic hearing loss 44 2 1 5 0 11 19
CCDC50-related disorder 0 0 3 6 3 12
Nonsyndromic genetic hearing loss 0 0 1 0 2 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 39 31 47 117
Labcorp Genetics (formerly Invitae), Labcorp 0 0 48 40 19 107
Ambry Genetics 0 0 43 4 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 10 8 18 36
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 30 33
PreventionGenetics, part of Exact Sciences 0 0 3 6 17 26
CeGaT Center for Human Genetics Tuebingen 0 0 7 4 1 12
Genome-Nilou Lab 0 0 0 0 10 10
Eurofins Ntd Llc (ga) 0 0 3 1 1 5
Athena Diagnostics 0 0 1 0 3 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 3 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genetics Department, Hospital Ramon y Cajal-IRYCIS 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 1

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