Submissions for variant NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)

dbSNP: rs113614842

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000246493	SCV000227282	benign	not specified	2016-10-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000246493	SCV000309287	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369147	SCV000397649	uncertain significance	Townes-Brocks syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000369147	SCV000745149	benign	Townes-Brocks syndrome 1	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513382	SCV001720993	benign	Townes syndrome	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001706124	SCV001849855	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706124	SCV004184565	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SALL1: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246493	SCV001978299	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001706124	SCV001979772	likely benign	not provided		no assertion criteria provided	clinical testing