Submissions for variant NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)

gnomAD frequency: 0.01265  dbSNP: rs34376836

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254378	SCV000315221	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000543583	SCV000657519	benign	Brown-Vialetto-van Laere syndrome 1	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000254378	SCV000713603	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gly80Gly in exon 2 of SLC52A3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 5.50% (247/4494) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs34376836).
GeneDx	RCV001711836	SCV001945862	benign	not provided	2019-10-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711836	SCV002506090	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503949	SCV002807397	benign	Brown-Vialetto-van Laere syndrome 1; Progressive bulbar palsy of childhood	2021-07-12	criteria provided, single submitter	clinical testing