ClinVar Miner

Variants in gene ATP2A1

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Minimum submission review status: Collection method:
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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
27 12 209 110 30 362

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brody myopathy 24 6 190 63 17 288
not provided 6 6 30 31 18 90
not specified 0 0 9 30 11 47

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 4 150 78 14 264
GeneDx 5 2 26 38 21 92
Illumina Clinical Services Laboratory,Illumina 0 0 53 4 9 66
Athena Diagnostics Inc 2 4 11 0 8 25
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 1 0 4 7
OMIM 5 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 4
Baylor Genetics 2 0 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Inborn Errors of Metabolism,Hospital Clinic, IDIBAPS, CIBERER 0 1 0 0 0 1

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