Submissions for variant NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)

dbSNP: rs77389229

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192312	SCV000246888	uncertain significance	not specified	2014-12-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764187	SCV000895189	uncertain significance	Intellectual disability, autosomal recessive 3	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001093046	SCV001249844	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV001093046	SCV004265284	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000764187	SCV004563270	uncertain significance	Intellectual disability, autosomal recessive 3	2023-09-27	criteria provided, single submitter	clinical testing	The CC2D1A c.2342G>C; p.Gly781Ala variant (rs2092723475), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 210600). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences	RCV003927770	SCV004738208	likely benign	CC2D1A-related disorder	2022-10-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).