ClinVar Miner

Variants in gene GPR68

Minimum submission review status: Collection method:
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Gene type:
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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 total
4 1 36 12 7 59

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 35 2 0 37
not provided 0 0 0 2 7 9
GPR68-related disorder 0 0 0 8 0 8
Amelogenesis imperfecta, hypomaturation type, IIa6 3 1 1 0 0 5
Amelogenesis imperfecta 4 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 35 2 0 37
PreventionGenetics, part of Exact Sciences 0 0 0 8 0 8
GeneDx 0 0 0 0 7 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2 4
OMIM 3 0 0 0 0 3
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 3 0 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 1 0 0 0 0 1

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