ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5625+65T>C

gnomAD frequency: 0.01203  dbSNP: rs372041159
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550049 SCV001770319 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001550049 SCV005209533 likely benign not provided criteria provided, single submitter not provided

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