Submissions for variant NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)

gnomAD frequency: 0.00101  dbSNP: rs150266932

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727345	SCV000707738	uncertain significance	not provided	2017-04-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000594879	SCV000711488	likely benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	p.Leu955Leu in exon 22 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 0.23% (55/24024 ) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org/; dbSNP rs150266932). ACMG/AMP criteria applied: BS1, BP7.
Invitae	RCV000727345	SCV001041424	likely benign	not provided	2023-12-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000727345	SCV001777634	likely benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000594879	SCV001925980	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000594879	SCV001972887	benign	not specified		no assertion criteria provided	clinical testing