ClinVar Miner

Variants in gene combination CACNA1A, LOC108663985

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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
3 0 0 1 2 6

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely benign benign total
Episodic ataxia type 2 3 0 0 3
not provided 0 1 1 2
Familial hemiplegic migraine type 1 1 0 0 1
Spinocerebellar ataxia 6 1 0 0 1
not specified 0 0 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely benign benign total
OMIM 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1

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