Submissions for variant NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg)

gnomAD frequency: 0.00197  dbSNP: rs201641746

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000962027	SCV001109092	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001146847	SCV001307607	uncertain significance	Gray platelet syndrome	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000962027	SCV004154366	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	NBEAL2: PP3, BS2
PreventionGenetics, part of Exact Sciences	RCV003983309	SCV004796644	benign	NBEAL2-related condition	2019-05-10	criteria provided, single submitter	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).