Submissions for variant NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)

gnomAD frequency: 0.00057  dbSNP: rs150093365

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000321273	SCV000342713	uncertain significance	not provided	2017-07-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765759	SCV000897147	uncertain significance	COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087972	SCV001000834	likely benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000321273	SCV001755909	uncertain significance	not provided	2024-09-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002518042	SCV003699771	likely benign	Inborn genetic diseases	2022-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV004543116	SCV004769800	likely benign	CC2D2A-related disorder	2023-02-07	no assertion criteria provided	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).