ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)

gnomAD frequency: 0.00031  dbSNP: rs140271276
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860855 SCV001001022 benign Telangiectasia, hereditary hemorrhagic, type 5 2024-01-15 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000860855 SCV001439477 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2018-01-01 criteria provided, single submitter research BS1 + BP2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860855 SCV001474228 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2021-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001569431 SCV001793505 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32573726, 30578397)
Ambry Genetics RCV002409011 SCV002672205 likely benign Cardiovascular phenotype 2021-03-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000860855 SCV002799396 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2022-04-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001569431 SCV001920306 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001569431 SCV001958703 likely benign not provided no assertion criteria provided clinical testing

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