Submissions for variant NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)

gnomAD frequency: 0.00013  dbSNP: rs536108231

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000304067	SCV000336298	benign	not specified	2015-10-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000304067	SCV000596920	benign	not specified	2017-06-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000304067	SCV000729834	benign	not specified	2017-08-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059139	SCV002401913	benign	Townes syndrome	2025-01-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001574061	SCV005289823	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001574061	SCV001800813	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001574061	SCV001928281	likely benign	not provided		no assertion criteria provided	clinical testing