Submissions for variant NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)

gnomAD frequency: 0.00290  dbSNP: rs41274696

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175925	SCV000227499	likely benign	not specified	2014-11-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000433571	SCV000511392	likely benign	not provided	2017-02-13	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001078821	SCV001013654	benign	Duane-radial ray syndrome	2023-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000433571	SCV001944401	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000433571	SCV004154725	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	SALL4: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003927615	SCV004744480	benign	SALL4-related condition	2019-07-26	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000433571	SCV001926363	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000433571	SCV001969967	likely benign	not provided		no assertion criteria provided	clinical testing