Submissions for variant NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV003443816	SCV004169495	uncertain significance	not provided	2023-05-12	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV003443816	SCV004369117	likely benign	not provided	2024-11-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004364680	SCV004922671	likely benign	Inborn genetic diseases	2021-12-03	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	RCV004554226	SCV004777427	likely benign	CCDC88C-related disorder	2022-04-23	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).