ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)

gnomAD frequency: 0.00113  dbSNP: rs144456901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286485 SCV001473067 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2020-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001286485 SCV001727173 benign Telangiectasia, hereditary hemorrhagic, type 5 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339711 SCV002619038 benign Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003973183 SCV004790976 benign GDF2-related disorder 2019-06-26 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).

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