ClinVar Miner

Variants studied for autosomal dominant hypocalcemia 1

Included ClinVar conditions (4):
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
62 28 662 251 27 1010

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASR 62 28 662 251 27 1010

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 26 627 242 19 953
Illumina Clinical Services Laboratory,Illumina 0 0 39 9 11 59
OMIM 21 0 0 0 0 21
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 3
Center for Bone Health,The Children's Hospital of Philadelphia 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 0 0 1

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