ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.525+3A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795794 SCV005418032 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 criteria provided, single submitter clinical testing PM2_Supporting+PS3+PP1_Moderate+PP4

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