ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)

gnomAD frequency: 0.00002  dbSNP: rs200941579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079308 SCV000111178 uncertain significance not provided 2013-03-08 criteria provided, single submitter clinical testing
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000515652 SCV000611770 uncertain significance Timothy syndrome 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV001048681 SCV001212696 likely benign Long QT syndrome 2023-12-19 criteria provided, single submitter clinical testing

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