ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.654C>T (p.Asp218=)

gnomAD frequency: 0.00006  dbSNP: rs782545137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413872 SCV001615994 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2023-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368294 SCV002658986 likely benign Cardiovascular phenotype 2020-03-22 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.
PreventionGenetics, part of Exact Sciences RCV003963308 SCV004783223 likely benign GDF2-related condition 2020-04-21 criteria provided, single submitter 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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