ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.-98G>A

gnomAD frequency: 0.00006  dbSNP: rs923040659
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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 RCV000507801 SCV000603451 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2020-04-17 criteria provided, single submitter clinical testing

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