Submissions for variant NM_014363.6(SACS):c.9846A>G (p.Pro3282=)

gnomAD frequency: 0.00281  dbSNP: rs61753111

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083576	SCV000562828	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000516893	SCV000614996	benign	not provided	2017-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000516893	SCV001148934	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7
GeneDx	RCV000516893	SCV001803981	likely benign	not provided	2020-11-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19779133)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848839	SCV002105118	likely benign	Hereditary spastic paraplegia	2020-12-08	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274922	SCV001459481	benign	Charlevoix-Saguenay spastic ataxia	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000516893	SCV001932386	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000516893	SCV001966122	likely benign	not provided		no assertion criteria provided	clinical testing