ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2104+27G>A

gnomAD frequency: 0.00143  dbSNP: rs183378048
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 RCV001655465 SCV001868772 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655465 SCV005315297 benign not provided criteria provided, single submitter not provided

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