ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=)

gnomAD frequency: 0.00762  dbSNP: rs76868547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608885 SCV000711491 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr2057Thr in exon 48 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2.1% (94/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs76868547).
GeneDx RCV000888092 SCV000718123 benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888092 SCV001031704 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000608885 SCV002068219 benign not specified 2019-11-11 criteria provided, single submitter clinical testing

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