ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6028G>A (p.Val2010Met)

dbSNP: rs1553360130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622798 SCV000741742 uncertain significance Inborn genetic diseases 2016-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546583 SCV004261010 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing

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