ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.979-40C>G

gnomAD frequency: 0.03712  dbSNP: rs114479295
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 RCV001656745 SCV001865522 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001656745 SCV005315325 benign not provided criteria provided, single submitter not provided

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