ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)

dbSNP: rs1555757537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517587 SCV000612512 pathogenic not provided 2016-12-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253541 SCV001429307 likely pathogenic Developmental and epileptic encephalopathy, 42 2019-05-08 criteria provided, single submitter clinical testing

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