Submissions for variant NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)

gnomAD frequency: 0.00004  dbSNP: rs147902831

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433307	SCV000521262	likely benign	not specified	2016-08-31	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	RCV000868324	SCV001009637	likely benign	Charcot-Marie-Tooth disease type 2	2024-06-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429384	SCV002681881	likely benign	Inborn genetic diseases	2023-04-06	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	RCV003922753	SCV004741690	likely benign	BSCL2-related disorder	2019-05-08	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).