Submissions for variant NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)

gnomAD frequency: 0.00141  dbSNP: rs189411650

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872924	SCV001014819	benign	Townes syndrome	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001690062	SCV001909661	benign	not provided	2019-05-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820951	SCV002064954	benign	not specified	2017-08-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504089	SCV002802192	likely benign	Townes-Brocks syndrome 1	2021-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001690062	SCV004033490	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SALL1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001690062	SCV005289807	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003922349	SCV004740685	benign	SALL1-related disorder	2019-05-08	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).