ClinVar Miner

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

gnomAD frequency: 0.12108  dbSNP: rs1804495
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV003974816 SCV006055541 benign SERPINA7-related disorder 2023-04-24 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001610288 SCV005276373 benign not provided criteria provided, single submitter not provided
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)
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).
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699178 SCV001962915 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699178 SCV001918733 benign not specified no assertion criteria provided clinical testing
OMIM RCV000010442 SCV000030668 pathogenic Thyroxine-binding globulin, variant P 1992-03-01 no assertion criteria provided literature only

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