ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1742-16C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070381 SCV003475867 benign Hereditary hemorrhagic telangiectasia 2024-07-30 criteria provided, single submitter clinical testing

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