Submissions for variant NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)

gnomAD frequency: 0.01629  dbSNP: rs76947760

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514570	SCV000609910	benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000191969	SCV000657508	benign	Brown-Vialetto-van Laere syndrome 1	2024-01-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000604517	SCV000732042	benign	not specified	2017-12-11	criteria provided, single submitter	clinical testing	p.Leu350Met in exon 3 of SLC52A3: This variant is not expected to have clinical significance because it has been identified in 5.3% (1269/24028) of African chro mosomes, including 40 homozygous individuals, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs76947760). ACMG/AMP criteria applied: BA1, BP2, BP4, BP5.
Mendelics	RCV000191969	SCV001142177	likely benign	Brown-Vialetto-van Laere syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000514570	SCV001901691	benign	not provided	2018-08-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514570	SCV002506053	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
GeneReviews	RCV000191969	SCV000246224	not provided	Brown-Vialetto-van Laere syndrome 1		no assertion provided	literature only