ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)

gnomAD frequency: 0.00002  dbSNP: rs199629212
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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 RCV001925935 SCV002177747 likely benign Hereditary hemorrhagic telangiectasia 2024-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042509 SCV005679900 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2024-02-29 criteria provided, single submitter clinical testing

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