ClinVar Miner

Variants in gene ATP6V0A2

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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
21 1 147 84 64 287

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cutis laxa with osteodystrophy 13 1 97 9 42 161
not provided 5 0 43 38 15 94
not specified 0 0 9 35 18 59
ALG9 congenital disorder of glycosylation 5 0 14 11 16 46
Cutis laxa, recessive 0 0 7 3 0 10
Cutis laxa with osteodystrophy; Wrinkly skin syndrome 0 0 4 0 0 4
Wrinkly skin syndrome 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 99 12 40 151
GeneDx 1 0 20 47 23 91
Invitae 5 0 14 30 17 66
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 16 1 11 33
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 2 0 13
Athena Diagnostics Inc 0 0 4 3 4 11
GeneReviews 9 0 0 0 2 11
OMIM 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 3 2 0 5
PreventionGenetics, PreventionGenetics 0 0 0 0 5 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 4
Baylor Genetics 1 0 2 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Division of Biology and Genetics,University of Brescia 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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