ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1742-28C>T

gnomAD frequency: 0.00001  dbSNP: rs752832223
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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 RCV002227364 SCV002506256 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2022-01-26 criteria provided, single submitter clinical testing

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