ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=)

gnomAD frequency: 0.00280  dbSNP: rs60134952
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907866 SCV001052595 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000907866 SCV001910940 benign not provided 2021-04-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907866 SCV004140852 benign not provided 2023-05-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000907866 SCV005252244 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729743 SCV001978229 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000907866 SCV001979958 likely benign not provided no assertion criteria provided clinical testing

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