Submissions for variant NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met)

gnomAD frequency: 0.00239  dbSNP: rs74988902

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001122396	SCV001000965	likely benign	Glanzmann thrombasthenia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001122396	SCV001281110	likely benign	Glanzmann thrombasthenia	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV003424379	SCV004140678	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ITGA2B: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003424379	SCV005212881	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004549918	SCV004746208	likely benign	ITGA2B-related disorder	2020-10-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).