ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1083-100A>C

gnomAD frequency: 0.17765  dbSNP: rs28425191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608219 SCV001834060 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001608219 SCV005315321 benign not provided criteria provided, single submitter not provided

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