Submissions for variant NM_000035.4(ALDOB):c.-214G>A

gnomAD frequency: 0.00678  dbSNP: rs185972191

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597453	SCV000706817	uncertain significance	not provided	2018-05-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000597453	SCV001714910	uncertain significance	not provided	2022-07-07	criteria provided, single submitter	clinical testing	BS1
Invitae	RCV001376734	SCV001719605	benign	Hereditary fructosuria	2023-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000597453	SCV001800954	uncertain significance	not provided	2020-03-04	criteria provided, single submitter	clinical testing	Functional studies found that this variant causes loss of transcription from the promoter (Coffee et al., 2010); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 20882353, 25910213)
CeGaT Center for Human Genetics Tuebingen	RCV000597453	SCV004042363	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ALDOB: BS1, BS2
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	RCV001376734	SCV001573893	pathogenic	Hereditary fructosuria	2021-03-18	no assertion criteria provided	literature only