Submissions for variant NM_005506.4(SCARB2):c.246G>C (p.Arg82=)

gnomAD frequency: 0.00116  dbSNP: rs35035064

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000188786	SCV000227365	likely benign	not specified	2016-08-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000188786	SCV000242410	benign	not specified	2015-01-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087551	SCV000557615	benign	Progressive myoclonic epilepsy	2025-01-20	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000472450	SCV001145445	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444703	SCV002733920	likely benign	Inborn genetic diseases	2019-02-23	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.
Fulgent Genetics, Fulgent Genetics	RCV002505253	SCV002811331	likely benign	Action myoclonus-renal failure syndrome	2021-10-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947490	SCV004762587	likely benign	SCARB2-related disorder	2019-11-13	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).