Submissions for variant NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)

gnomAD frequency: 0.11690  dbSNP: rs1804495

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001610288	SCV001838584	benign	not provided	2021-02-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 33554479, 2155256, 1515456, 25333069)
Breakthrough Genomics, Breakthrough Genomics	RCV001610288	SCV005276373	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000010442	SCV000030668	pathogenic	Thyroxine-binding globulin, variant P	1992-03-01	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV001699178	SCV001918733	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699178	SCV001962915	benign	not specified		no assertion criteria provided	clinical testing
Department of Endocrinology, The Fourth Affiliated Hospital of Guangzhou Medical University	RCV002264638	SCV002546359	likely risk allele	Thyroxine-binding globulin quantitative trait locus		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974816	SCV004790798	benign	SERPINA7-related disorder	2019-11-20	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).