Submissions for variant NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)

dbSNP: rs113614842

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000251431	SCV000227286	likely benign	not specified	2014-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000251431	SCV000309288	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000552954	SCV000630913	benign	Townes syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000612233	SCV000743745	benign	Townes-Brocks syndrome 1	2016-05-20	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612233	SCV000745148	benign	Townes-Brocks syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001573351	SCV001893180	benign	not provided	2015-08-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 33226606)
Fulgent Genetics, Fulgent Genetics	RCV000612233	SCV002803788	benign	Townes-Brocks syndrome 1	2022-01-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612233	SCV000733505	benign	Townes-Brocks syndrome 1		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573351	SCV001799110	likely benign	not provided		no assertion criteria provided	clinical testing