ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1281G>T (p.Gly427=)

gnomAD frequency: 0.00001  dbSNP: rs781842184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001459528 SCV001663370 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2022-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001459528 SCV002806612 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2021-08-15 criteria provided, single submitter clinical testing
GeneDx RCV003232164 SCV003930142 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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