ClinVar Miner

Variants in gene TOP1MT

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
0 0 155 81 31 262

Condition and significance breakdown #

Total conditions: 3
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Condition uncertain significance likely benign benign total
not provided 92 76 31 197
not specified 71 5 0 76
Sensorineural hearing loss disorder; Premature ovarian insufficiency 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 92 73 31 196
Ambry Genetics 71 5 0 76
Breakthrough Genomics, Breakthrough Genomics 2 4 13 19
CeGaT Center for Human Genetics Tuebingen 0 4 1 5
GeneDx 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 1

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