Submissions for variant NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)

gnomAD frequency: 0.09006  dbSNP: rs1044499

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244940	SCV000312020	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402232	SCV000446340	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000402232	SCV001728568	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000084273	SCV001848702	benign	not provided	2018-08-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000084273	SCV005300478	benign	not provided		criteria provided, single submitter	not provided
VIB Department of Molecular Genetics, University of Antwerp	RCV000084273	SCV000116409	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244940	SCV001809280	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000244940	SCV001970308	benign	not specified		no assertion criteria provided	clinical testing