Submissions for variant NM_001128840.3(CACNA1D):c.1220+700C>T

gnomAD frequency: 0.00535  dbSNP: rs117630105

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214674	SCV000268815	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	1220+10C>T in intron 8 of CACNA1D: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 12.9% (25/194) of Han Chinese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/pro jects/SNP; dbSNP rs117630105).
GeneDx	RCV000214674	SCV000718720	benign	not specified	2017-08-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000964249	SCV001111448	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316171	SCV004016958	benign	Aldosterone-producing adenoma with seizures and neurological abnormalities	2023-07-07	criteria provided, single submitter	clinical testing