Submissions for variant NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)

gnomAD frequency: 0.00758  dbSNP: rs147155126

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117219	SCV000151390	benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224126	SCV000281143	likely benign	not provided	2016-02-17	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000117219	SCV000330967	likely benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082206	SCV000629383	benign	Sandhoff disease	2025-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224126	SCV000892409	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	HEXB: BS1, BS2
Illumina Laboratory Services, Illumina	RCV001082206	SCV001318409	benign	Sandhoff disease	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000224126	SCV001831222	benign	not provided	2019-04-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000224126	SCV000801316	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001082206	SCV002084933	benign	Sandhoff disease	2019-12-04	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935116	SCV004747269	benign	HEXB-related disorder	2019-07-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).