ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln)

gnomAD frequency: 0.00003  dbSNP: rs200459424
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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 RCV002095696 SCV002384925 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2024-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002095696 SCV005637371 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2024-05-31 criteria provided, single submitter clinical testing

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