ClinVar Miner

Variants studied for Hyperparathyroidism, transient neonatal

Coded as:
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
6 9 6 1 0 19

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 total
TRPV6 6 9 6 1 19

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 6 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 6 0 0 6
Baylor Genetics 0 0 2 0 2
Revvity Omics, Revvity 1 0 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 2
Suma Genomics, Suma Genomics 0 1 1 0 2
Mendelics 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 1

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