Submissions for variant NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)

gnomAD frequency: 0.00691  dbSNP: rs61740117

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002313863	SCV000848026	likely benign	Inborn genetic diseases	2018-12-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000955031	SCV001101709	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505040	SCV002803784	likely benign	Intellectual disability, autosomal recessive 3	2021-09-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000955031	SCV003918084	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CC2D1A: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003915141	SCV004729300	benign	CC2D1A-related condition	2019-06-21	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago	RCV000116595	SCV000150558	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.