Submissions for variant NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)

dbSNP: rs115098969

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173825	SCV000224980	likely benign	not specified	2015-03-05	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000420793	SCV000511050	likely benign	not provided	2016-12-30	criteria provided, single submitter	clinical testing	Converted during submission from Likely Benign to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082453	SCV000773987	likely benign	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2025-01-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173825	SCV002065619	likely benign	not specified	2021-12-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000420793	SCV005260485	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004965292	SCV005494409	likely benign	Inborn genetic diseases	2024-08-26	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000420793	SCV001798340	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000420793	SCV001967798	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000420793	SCV001978183	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539603	SCV004796291	benign	SDCCAG8-related disorder	2019-06-19	no assertion criteria provided	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).