Submissions for variant NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)

gnomAD frequency: 0.00011  dbSNP: rs113817720

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728194	SCV000855738	uncertain significance	not provided	2017-07-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485855	SCV002790565	uncertain significance	Alpha-1-antitrypsin deficiency	2022-02-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002485855	SCV003280150	likely benign	Alpha-1-antitrypsin deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000728194	SCV005409809	uncertain significance	not provided	2023-11-21	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV002485855	SCV006055532	uncertain significance	Alpha-1-antitrypsin deficiency	2020-08-24	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003918187	SCV004730174	likely benign	SERPINA1-related disorder	2023-08-13	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).