Submissions for variant NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)

gnomAD frequency: 0.00922  dbSNP: rs12849161

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147491	SCV000194927	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205475	SCV000259978	benign	Spastic paraplegia	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313717	SCV000848502	benign	Inborn genetic diseases	2016-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001668129	SCV001891817	benign	not provided	2019-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847614	SCV002105203	likely benign	Hereditary spastic paraplegia	2017-08-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668129	SCV005210618	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020648	SCV000041175	not provided	Allan-Herndon-Dudley syndrome		no assertion provided	literature only
Clinical Genetics, Academic Medical Center	RCV000147491	SCV001923767	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147491	SCV001966919	benign	not specified		no assertion criteria provided	clinical testing