ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1957-184T>C

gnomAD frequency: 0.00800  dbSNP: rs77068887
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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 RCV001732731 SCV001983342 likely benign not provided 2021-04-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001732731 SCV005258188 likely benign not provided criteria provided, single submitter not provided

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