Submissions for variant NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) (rs74499562)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000202832	SCV000257792	benign	not specified	2014-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000202832	SCV000309284	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000540322	SCV000630912	benign	Townes syndrome	2020-01-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000292562	SCV000743742	benign	Townes-Brocks syndrome 1	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000292562	SCV000745146	benign	Townes-Brocks syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000992805	SCV001145358	benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000992805	SCV001848730	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000992805	SCV001798691	likely benign	not provided		no assertion criteria provided	clinical testing