ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1914-1G>A

dbSNP: rs2145002387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV001733809 SCV001984768 likely pathogenic Neurodevelopmental abnormality no assertion criteria provided clinical testing

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