ClinVar Miner

Variants in gene BPNT2

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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
7 4 172 59 32 267

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chondrodysplasia with joint dislocations, gPAPP type 5 3 111 16 21 156
not provided 3 1 40 39 24 105
not specified 0 0 29 0 0 29
Chondrodysplasia 0 0 9 4 0 13
BPNT2-related disorder 0 0 0 2 1 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 118 20 21 159
Labcorp Genetics (formerly Invitae), Labcorp 2 0 36 38 5 81
Ambry Genetics 0 0 28 0 0 28
Breakthrough Genomics, Breakthrough Genomics 0 0 3 2 18 23
GeneDx 1 1 0 0 7 9
OMIM 4 0 0 0 0 4
PreventionGenetics, part of Exact Sciences 0 0 0 2 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 3
Baylor Genetics 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
3billion 0 0 1 0 0 1

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