ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.911C>T (p.Thr304Met)

gnomAD frequency: 0.00530  dbSNP: rs75024165
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082466 SCV000654689 benign Telangiectasia, hereditary hemorrhagic, type 5 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597100 SCV000701629 benign not specified 2016-10-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001082466 SCV000885504 benign Telangiectasia, hereditary hemorrhagic, type 5 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000757325 SCV001822797 likely benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377164 SCV002685592 benign Cardiovascular phenotype 2022-05-05 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.
Fulgent Genetics, Fulgent Genetics RCV001082466 SCV002806282 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000757325 SCV005220663 likely benign not provided criteria provided, single submitter not provided

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