ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6122G>A (p.Arg2041Gln)

gnomAD frequency: 0.00004  dbSNP: rs748537145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815688 SCV002062851 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001815688 SCV002351284 benign not provided 2022-10-07 criteria provided, single submitter clinical testing

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