ClinVar Miner

Variants studied for Mucolipidosis type II; Pseudo-Hurler polydystrophy

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
208 177 194 743 46 1327

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
GNPTAB 208 177 194 743 46 1327

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 205 39 181 739 46 1210
Fulgent Genetics, Fulgent Genetics 19 33 13 5 0 70
Myriad Genetics, Inc. 1 64 0 0 0 65
Counsyl 14 23 21 0 0 58
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 27 1 1 0 30
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1

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