ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1378-49C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003620508 SCV004563534 benign Telangiectasia, hereditary hemorrhagic, type 2 2024-09-25 criteria provided, single submitter clinical testing

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