ClinVar Miner

Variants studied for Hypercalcemia, infantile, 2

Coded as:
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
8 5 3 0 0 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SLC34A1 8 5 3 14

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 1 4
Baylor Genetics 2 1 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1
MK Azim Lab,Mohammad Ali Jinnah University 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 1

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