ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.714C>T (p.Asp238=)

gnomAD frequency: 0.00001  dbSNP: rs782288867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397882 SCV001599643 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2024-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169130 SCV003911975 likely benign Cardiovascular phenotype 2022-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001397882 SCV004565321 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2023-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918382 SCV004742593 likely benign GDF2-related disorder 2019-05-24 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).

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