ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)

gnomAD frequency: 0.00010  dbSNP: rs180821007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864841 SCV001005705 benign Telangiectasia, hereditary hemorrhagic, type 5 2024-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000864841 SCV002798438 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2021-08-31 criteria provided, single submitter clinical testing

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