Submissions for variant NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)

gnomAD frequency: 0.00183  dbSNP: rs146747080

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000613860	SCV000711486	benign	not specified	2016-06-05	criteria provided, single submitter	clinical testing	p.Leu686Leu in exon 15 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 0.5% (35/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs146747080).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625436	SCV000745352	likely benign	Sinoatrial node dysfunction and deafness	2017-06-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729981	SCV000857685	uncertain significance	not provided	2017-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000729981	SCV001032122	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000729981	SCV001891335	benign	not provided	2019-11-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000613860	SCV002068976	likely benign	not specified	2020-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000729981	SCV004034006	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	CACNA1D: BP4
Clinical Genetics, Academic Medical Center	RCV000613860	SCV001917111	benign	not specified		no assertion criteria provided	clinical testing