Submissions for variant NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)

gnomAD frequency: 0.00316  dbSNP: rs139646526

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000244001	SCV000515890	benign	not specified	2015-12-22	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.
Eurofins Ntd Llc (ga)	RCV000244001	SCV000700611	benign	not specified	2017-04-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865465	SCV001006435	benign	Townes syndrome	2025-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002274958	SCV002563340	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SALL1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002274958	SCV005216432	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891914	SCV000309286	benign	SALL1-related disorder	2021-03-23	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).