ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6050+23A>C

gnomAD frequency: 0.00024  dbSNP: rs575642712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245091 SCV002513629 likely benign not provided 2021-11-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002245091 SCV005209530 likely benign not provided criteria provided, single submitter not provided

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